generalized epilepsy

Summary

Summary: Recurrent conditions characterized by epileptic seizures which arise diffusely and simultaneously from both hemispheres of the brain. Classification is generally based upon motor manifestations of the seizure (e.g., convulsive, nonconvulsive, akinetic, atonic, etc.) or etiology (e.g., idiopathic, cryptogenic, and symptomatic). (From Mayo Clin Proc, 1996 Apr;71(4):405-14)

Top Publications

  1. ncbi Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2
    J Spampanato
    Department of Microbiology and Molecular Genetics, University of California, Irvine, California 92697-4025, USA
    J Neurosci 21:7481-90. 2001
  2. ncbi MRI volumetry of the thalamus in temporal, extratemporal, and idiopathic generalized epilepsy
    Jun Natsume
    Department of Neurology and Neurosurgery, McGill University, Montreal Neurological Institute and Hospital, Quebec, Canada
    Neurology 60:1296-300. 2003
  3. ncbi Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1
    Laurence S Meadows
    Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Quebec H3A 2B4, Canada
    J Neurosci 22:10699-709. 2002
  4. ncbi SV2A protein is a broad-spectrum anticonvulsant target: functional correlation between protein binding and seizure protection in models of both partial and generalized epilepsy
    Rafal M Kaminski
    CNS Research, UCB Pharma SA, Chemin du Foriest R9, Braine l Alleud, Belgium
    Neuropharmacology 54:715-20. 2008
  5. ncbi Elevated corticotropin releasing hormone/corticotropin releasing hormone-R1 expression in postmortem brain obtained from children with generalized epilepsy
    W Wang
    Department of Paediatrics, Kingston General Hospital, Ontario, Canada
    Ann Neurol 50:404-9. 2001
  6. ncbi Heart rate variability in children with refractory generalized epilepsy
    Tomor Harnod
    Department of Neurosurgery, Buddhist Tzu Chi General Hospital, Hualien, Taiwan
    Seizure 17:297-301. 2008
  7. ncbi Molecular basis of an inherited epilepsy
    Christoph Lossin
    Division of Genetic Medicine, Center for Molecualr Neurosciences, Vanderbilt University, Nashville, TN 37232, USA
    Neuron 34:877-84. 2002
  8. ncbi Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function
    R Xu
    Howard Florey Institute, The University of Melbourne, Parkville, Melbourne, Victoria 3010, Australia
    Neuroscience 148:164-74. 2007
  9. ncbi Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy
    K P Lenzen
    Gene Mapping Center, Max Delbruck Center for Molecular Medicine, Robert Rossle Str 10, 13125 Berlin, Germany
    Epilepsy Res 63:113-8. 2005
  10. ncbi Screening of GABRB3 in French-Canadian families with idiopathic generalized epilepsy
    Pamela Lachance-Touchette
    CHUM Research Center, Hopital Notre Dame, Centre d excellence en neuromique de l Université de Montréal, Montreal, Quebec, Canada
    Epilepsia 51:1894-7. 2010

Detail Information

Publications251 found, 100 shown here

  1. ncbi Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2
    J Spampanato
    Department of Microbiology and Molecular Genetics, University of California, Irvine, California 92697-4025, USA
    J Neurosci 21:7481-90. 2001
    Two mutations that cause generalized epilepsy with febrile seizures plus (GEFS+) have been identified previously in the SCN1A gene encoding the alpha subunit of the Na(v)1.1 voltage-gated sodium channel (Escayg et al., 2000)...
  2. ncbi MRI volumetry of the thalamus in temporal, extratemporal, and idiopathic generalized epilepsy
    Jun Natsume
    Department of Neurology and Neurosurgery, McGill University, Montreal Neurological Institute and Hospital, Quebec, Canada
    Neurology 60:1296-300. 2003
    ..To examine the specificity of thalamic atrophy in epilepsy...
  3. ncbi Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1
    Laurence S Meadows
    Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Quebec H3A 2B4, Canada
    J Neurosci 22:10699-709. 2002
    b>Generalized epilepsy with febrile seizures plus type 1 is an inherited human epileptic syndrome, associated with a cysteine-to-tryptophan (C121W) mutation in the extracellular immunoglobin domain of the auxiliary beta1 subunit of the ..
  4. ncbi SV2A protein is a broad-spectrum anticonvulsant target: functional correlation between protein binding and seizure protection in models of both partial and generalized epilepsy
    Rafal M Kaminski
    CNS Research, UCB Pharma SA, Chemin du Foriest R9, Braine l Alleud, Belgium
    Neuropharmacology 54:715-20. 2008
    ....
  5. ncbi Elevated corticotropin releasing hormone/corticotropin releasing hormone-R1 expression in postmortem brain obtained from children with generalized epilepsy
    W Wang
    Department of Paediatrics, Kingston General Hospital, Ontario, Canada
    Ann Neurol 50:404-9. 2001
    ..a CRH membrane receptor) were significantly elevated in cortical tissue obtained from 6 children with generalized epilepsy (mean age 8.2+/-1.5 years) relative to age-matched controls (mean age 7.8+/-1.4 years)...
  6. ncbi Heart rate variability in children with refractory generalized epilepsy
    Tomor Harnod
    Department of Neurosurgery, Buddhist Tzu Chi General Hospital, Hualien, Taiwan
    Seizure 17:297-301. 2008
    ..Few studies of interictal dysregulation of cardiac activity in children with epilepsy have been performed. In this study we characterize heart rate variability (HRV) in children with refractory generalized epilepsy.
  7. ncbi Molecular basis of an inherited epilepsy
    Christoph Lossin
    Division of Genetic Medicine, Center for Molecualr Neurosciences, Vanderbilt University, Nashville, TN 37232, USA
    Neuron 34:877-84. 2002
    ..In generalized epilepsy with febrile seizures plus, an autosomal dominant epilepsy syndrome, mutations in three genes coding for ..
  8. ncbi Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function
    R Xu
    Howard Florey Institute, The University of Melbourne, Parkville, Melbourne, Victoria 3010, Australia
    Neuroscience 148:164-74. 2007
    ..domain of the sodium channel beta1 subunit have been identified in individuals from two families with generalized epilepsy with febrile seizures plus (GEFS+)...
  9. ncbi Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy
    K P Lenzen
    Gene Mapping Center, Max Delbruck Center for Molecular Medicine, Robert Rossle Str 10, 13125 Berlin, Germany
    Epilepsy Res 63:113-8. 2005
    ..The present replication study tested the initial finding that the KCNJ10 Cys271 allele is associated with seizure resistance to common syndromes of idiopathic generalized epilepsy (IGE).
  10. ncbi Screening of GABRB3 in French-Canadian families with idiopathic generalized epilepsy
    Pamela Lachance-Touchette
    CHUM Research Center, Hopital Notre Dame, Centre d excellence en neuromique de l Université de Montréal, Montreal, Quebec, Canada
    Epilepsia 51:1894-7. 2010
    ..the frequency of mutation in this gene in our cohort of families with CAE and other related idiopathic generalized epilepsy (IGE) syndromes...
  11. ncbi A novel locus for generalized epilepsy with febrile seizures plus in French families
    Stephanie Baulac
    INSERM, UMR679, Neurologie and Thérapeutique Expérimentale, UPMC Univ Paris 06, Groupe Hospitalier Pitie Salpetriere, 47 Boulevard de l Hopital, 75013 Paris, France
    Arch Neurol 65:943-51. 2008
    b>Generalized epilepsy with febrile seizures plus (GEFS(+)) is a familial autosomal dominant entity characterized by the association of febrile and afebrile seizures...
  12. pmc 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
    Ingo Helbig
    Department of Neuropediatrics, University Medical Center Schleswig Holstein Kiel Campus, Schwanenweg 20, 24105 Kiel, Germany
    Nat Genet 41:160-2. 2009
    We identified 15q13.3 microdeletions encompassing the CHRNA7 gene in 12 of 1,223 individuals with idiopathic generalized epilepsy (IGE), which were not detected in 3,699 controls (joint P = 5.32 x 10(-8))...
  13. ncbi Exploring new gene discoveries in idiopathic generalized epilepsy
    Jeffrey L Noebels
    Developmental Neurogenetics Laboratory, Department of Neurology, Baylor College of Medicine, Houston, Texas 77030, U S A
    Epilepsia 44:16-21. 2003
    ..Further analyses of these gene mutations and their effects on the developing brain are providing critical clues in the search to explain the origin of "idiopathic" epilepsy...
  14. ncbi A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction
    J Spampanato
    Department of Microbiology and Molecular Genetics, University of California, Irvine, Irvine, California 92697 4025, USA
    J Neurosci 24:10022-34. 2004
    A mutation in the sodium channel SCN1A was identified in a small Italian family with dominantly inherited generalized epilepsy with febrile seizures plus (GEFS+)...
  15. ncbi Elevated anxiety and depressive-like behavior in a rat model of genetic generalized epilepsy suggesting common causation
    Nigel C Jones
    Department of Medicine, Royal Melbourne Hospital, University of Melbourne, Royal Parade, Parkville, Vic, Australia
    Exp Neurol 209:254-60. 2008
    ..This study addresses this using Genetic Absence Epilepsy Rats from Strasbourg (GAERS), a model of human generalized epilepsy. We subjected GAERS (n=47) and Non-Epileptic Control rats (NEC; n=73) to behavioral measures of depression ..
  16. ncbi Mild generalized epilepsy and developmental disorder associated with large inv dup(15)
    Rosanna Chifari
    Regional Centre of Epilepsy, San Paolo Hospital Milano, Italy
    Epilepsia 43:1096-100. 2002
    ..We report two patients with inv dup(15) who, in spite of a large duplication, had a mild phenotype including adult-onset epilepsy. This report may help to define the milder spectrum of the syndrome...
  17. ncbi Memory consolidation and accelerated forgetting in children with idiopathic generalized epilepsy
    Michelle Davidson
    Section of Psychological Medicine, University of Glasgow, Glasgow, UK
    Epilepsy Behav 11:394-400. 2007
    Whether children with idiopathic generalized epilepsy exhibit accelerated forgetting of verbal and nonverbal information in comparison to healthy controls matched for age and IQ was explored...
  18. ncbi Levetiracetam reduces frequency and duration of epileptic activity in patients with refractory primary generalized epilepsy
    R Rocamora
    Epilepsy Center, University of Freiburg, Breisacher Str 64, D 79106 Freiburg, Germany
    Seizure 15:428-33. 2006
    ..In animal models, LEV is effective against absence seizures. A limited number of case reports and series indicate that LEV reduces seizure frequency in patients with generalized epilepsies...
  19. ncbi EEG features of absence seizures in idiopathic generalized epilepsy: impact of syndrome, age, and state
    Lynette Grant Sadleir
    Department of Paediatrics, Wellington School of Medicine, University of Otago, Wellington, New Zealand
    Epilepsia 50:1572-8. 2009
    ..the electroencephalography (EEG) features of absence seizures in newly presenting children with idiopathic generalized epilepsy (IGE) have not been rigorously studied...
  20. ncbi Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes
    E Stogmann
    Department of Neurology, Medical University of Vienna, Allgemeines Krankenhaus Stadt Wien, Waehringer Guertel 18 20, 1090, Vienna, Austria
    Neurogenetics 7:265-8. 2006
    ..No definite mutations were found in our study population. We conclude that mutations in the CLCN2 gene are only a rare cause of idiopathic generalized epilepsy.
  21. ncbi Changing the paradigm of 1-stage total callosotomy for the treatment of pediatric generalized epilepsy
    Kyu Won Shim
    Department of Neurosurgery, Severance Children s Hospital, Yonsei University College of Medicine, Seodaemun gu, Seoul, Korea
    J Neurosurg Pediatr 2:29-36. 2008
    ..The authors propose that anterior callosotomy -- thought to have some advantages over total callosotomy -- is not superior to total callosotomy for prevention of seizure propagation or other complications...
  22. ncbi MRI reveals structural abnormalities in patients with idiopathic generalized epilepsy
    L E Betting
    Department of Neurology, State University of Campinas, UNICAMP, Brazil
    Neurology 67:848-52. 2006
    ..To evaluate MRI findings in a large group of patients with idiopathic generalized epilepsies...
  23. ncbi Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy
    Thomas Sander
    Department of Neurology, Epilepsy Genetics Group, University Clinic Charite, Humboldt University of Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    Epilepsy Res 51:249-55. 2002
    ..81, df=1, P=0.016). Our results support the hypothesis that variation of the AE3 gene confers a common but small susceptibility effect to the etiology of a broad spectrum of IGE syndromes...
  24. ncbi Auras are frequent in idiopathic generalized epilepsy
    L S Boylan
    Department of Neurology, New York University School of Medicine, New York, NY 10016, USA
    Neurology 67:343-5. 2006
    The occurrence of an aura is often considered evidence of a partial rather than an idiopathic generalized epilepsy syndrome...
  25. ncbi Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
    A Escayg
    1 Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA
    Nat Genet 24:343-5. 2000
  26. ncbi Anterior corpus callosotomy in patients with intractable generalized epilepsy and mental retardation
    Shuli Liang
    Department of Neurosurgery, First Affiliated Hospital of General Hospital of Chinese People s Liberation Army, Beijing, China
    Stereotact Funct Neurosurg 88:246-52. 2010
    To prospectively study outcomes of anterior corpus callosotomy (aCCT) in patients with refractory generalized epilepsy (RGE) and mental retardation (MR), and estimate the effect of preoperative Wechsler Full Scale Intelligence Quotient (..
  27. ncbi The influence of C3435T polymorphism of ABCB1 gene on penetration of phenobarbital across the blood-brain barrier in patients with generalized epilepsy
    Silvio Basic
    Department of Neurology, Zagreb University Hospital Center, Kispaticeva 12, 10 000 Zagreb, Croatia
    Seizure 17:524-30. 2008
    ..P-glycoprotein (Pgp), a transmembrane transporter encoded by ABCB1 gene and located at the endothelial cells of the blood-brain barrier (BBB), has been associated with epilepsy pharmacoresistance...
  28. ncbi Thalamo-cortical network pathology in idiopathic generalized epilepsy: insights from MRI-based morphometric correlation analysis
    Boris C Bernhardt
    Department of Neurology, Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada
    Neuroimage 46:373-81. 2009
    Epileptic activity underlying idiopathic generalized epilepsy (IGE) is related to abnormal thalamo-cortical interactions. Our purpose was to map in vivo the organization of the thalamo-cortical network in IGE...
  29. ncbi Tiagabine-induced absence status in idiopathic generalized epilepsy
    S Knake
    Philipps University, Neurologische Klinik, Marburg, Germany
    Seizure 8:314-7. 1999
    ..In animal models of generalized epilepsy, TGB induces absence status with 3-5 Hz spike-wave complexes...
  30. pmc Is there a circadian variation of epileptiform abnormalities in idiopathic generalized epilepsy?
    Milena K Pavlova
    Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
    Epilepsy Behav 16:461-7. 2009
    ..Five patients with generalized epilepsy underwent a protocol whereby their sleep/wake schedule was evenly distributed across the circadian cycle ..
  31. ncbi Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation
    B Abou-Khalil
    Department of Neurology, Vanderbilt University School of Medicine, Nashville, TN 37212, USA
    Neurology 57:2265-72. 2001
    b>Generalized epilepsy with febrile seizures plus (GEFS+) is an autosomal dominant syndrome characterized by febrile seizures (FS) and a variety of afebrile generalized seizure types...
  32. ncbi Association analysis of a regulatory promoter polymorphism of the PAX-6 gene with idiopathic generalized epilepsy
    T Sander
    Department of Neurology, University Hospital Charite, Humboldt University Berlin, Germany
    Epilepsy Res 36:61-7. 1999
    ..region, PAX-6LPR) confers susceptibility to the epileptogenesis of common subtypes of idiopathic generalized epilepsy (IGE)...
  33. ncbi Idiopathic generalized epilepsy and choice of antiepileptic drugs
    Selim R Benbadis
    Comprehensive Epilepsy Program, Department of Neurology, University of South Florida and Tampa General Hospital, Tampa, USA
    Neurology 61:1793-5. 2003
    The authors reviewed 58 patients with EEG-confirmed idiopathic generalized epilepsy (IGE)...
  34. ncbi Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations
    E Stogmann
    Department of Neurology, Medical University of Vienna, Vienna, Austria
    Neurology 67:2029-31. 2006
    We sequenced 61 patients with various idiopathic generalized epilepsy (IGE) syndromes for mutations in the EFHC1 gene...
  35. ncbi Suicide attempts in adult patients with idiopathic generalized epilepsy
    Eriko Hara
    Department of Clinical Neurophysiology and Epilepsies, Guy s and St Thomas NHS Foundation Trust, London, UK
    Psychiatry Clin Neurosci 63:225-9. 2009
    To study clinical features of adult patients with idiopathic generalized epilepsy with special attention to suicidal behavior.
  36. ncbi Cognitive function in idiopathic generalized epilepsy of childhood
    Yael Henkin
    Department of Communication Disorders, The Chaim Sheba Medical Centre, Tel Hashomer, 52621 Israel
    Dev Med Child Neurol 47:126-32. 2005
    This study evaluated the cognitive profiles of children with idiopathic generalized epilepsy (IGE), uniformly treated with valproic acid with well-controlled seizures. Twenty-four were neuropsychologically evaluated...
  37. ncbi No association between common variations in the human alpha 2 subunit gene (ATP1A2) of the sodium-potassium-transporting ATPase and idiopathic generalized epilepsy
    Falk W Lohoff
    Department of Psychiatry, University of Pennsylvania School of Medicine, Center for Neurobiology and Behavior, 3535 Market Street, 2nd Floor, R2070, Philadelphia, PA 19104, USA
    Neurosci Lett 382:33-8. 2005
    ..Genotypes were assessed in 152 idiopathic generalized epilepsy (IGE) patients of German ancestry and 111 healthy German controls for all seven polymorphisms...
  38. ncbi Adult-onset idiopathic generalized epilepsy: clinical and behavioral features
    S Cutting
    Department of Neurology, New York University School of Medicine, New York, New York, USA
    Epilepsia 42:1395-8. 2001
    PURPOSE: To identify and define clinical and behavioral features of patients with adult-onset idiopathic generalized epilepsy (IGE)...
  39. ncbi The temporal dynamics of postanoxic burst-suppression EEG
    Frank Thömke
    Department of Neurology, University of Mainz, Langenbeckstrasse 1, D 55101 Mainz, Germany
    J Clin Neurophysiol 19:24-31. 2002
    ....
  40. ncbi Lack of evidence of an allelic association of a functional GABRB3 exon 1a promoter polymorphism with idiopathic generalized epilepsy
    Anne Hempelmann
    Max Delbruck Center for Molecular Medicine, Robert Rössle Street 10, 13125 Berlin, Germany
    Epilepsy Res 74:28-32. 2007
    ..The present population-based association study tested whether the C-allele of rs4906902 confers susceptibility to CAE or other common syndromes of idiopathic generalized epilepsy (IGE) in a German sample.
  41. ncbi Glut-1 deficiency syndrome masquerading as idiopathic generalized epilepsy
    Eliane Roulet-Perez
    Pediatric Neurology and Neurorehabilitation Unit, Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Epilepsia 49:1955-8. 2008
    ..with short absences and occasional myoclonias since infancy who was first diagnosed with an idiopathic generalized epilepsy, but was documented at follow-up to have a mild phenotype of glucose transporter type 1 deficiency syndrome...
  42. ncbi Allelic association of a truncation mutation of the KCNMB3 gene with idiopathic generalized epilepsy
    Susanne Lorenz
    Gene Mapping Center, Max Delbruck Center for Molecular Medicine, Berlin, Germany
    Am J Med Genet B Neuropsychiatr Genet 144:10-3. 2007
    ..potassium (BK) channels represents a positional and functional candidate gene for idiopathic generalized epilepsy (IGE)...
  43. ncbi Imaging the cortical effect of lamotrigine in patients with idiopathic generalized epilepsy: a low-resolution electromagnetic tomography (LORETA) study
    Bela Clemens
    Kenézy Gyula Memorial Hospital, Neurological Department, Debrecen, Hungary
    Epilepsy Res 81:204-10. 2008
    Anatomical localization of the cortical effect of lamotrigine (LTG) in patients with idiopathic generalized epilepsy (IGE).
  44. ncbi An association between type 1 diabetes and idiopathic generalized epilepsy
    Dougall McCorry
    Department of Neurosciences, Walton Centre for Neurology and Neurosurgery, Lower Lane, Fazakerly, Liverpool L9 7LJ, United Kingdom
    Ann Neurol 59:204-6. 2006
    ..Clinical experience suggested the two conditions were seen in individuals more frequently than might be expected by chance...
  45. ncbi Refractory calculation-induced idiopathic generalized epilepsy: a case report and review of the literature
    Mohamad A Mikati
    Department of Pediatrics, Adult and Pediatric Epilepsy Program, American University of Beirut Medical Center, Beirut, Lebanon
    Epilepsia 46:48-50. 2005
    We report a case with calculation-induced idiopathic generalized epilepsy (IGE) that, unlike most patients with IGE, was refractory to medications...
  46. ncbi Association analysis of malic enzyme 2 gene polymorphisms with idiopathic generalized epilepsy
    Kirsten P Lenzen
    Gene Mapping Center, Max Delbruck Center for Molecular Medicine, Berlin, Germany
    Epilepsia 46:1637-41. 2005
    ..polymorphisms (SNPs) of the gene encoding the malic enzyme 2 (ME2) and adolescent-onset idiopathic generalized epilepsy (IGE)...
  47. ncbi Outcomes of newly diagnosed idiopathic generalized epilepsy syndromes in a non-pediatric setting
    R Mohanraj
    Department of Neurology, Hope Hospital, Salford, Lancashire, UK
    Acta Neurol Scand 115:204-8. 2007
    The prognosis of idiopathic generalized epilepsy syndromes (IGES) in the adult setting may vary from that in children owing to differences in genetic, environmental and lifestyle factors.
  48. ncbi Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS)
    Patrick Cossette
    Center for Research in Neuroscience, McGill University Health Center Research Institute, McGill University, The Montreal General Hospital, 1650 Cedar Avenue, Quebec, H3G 1A4, Montreal, Canada
    Epilepsy Res 53:107-17. 2003
    ..We identified a mutation (D188V) in SCN1A segregating with generalized epilepsy with febrile seizures (GEFS) in a large kindred...
  49. ncbi A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus
    John H Livingston
    Department of Paediatric Neurology, Clarendon Wing, Leeds General Infirmary, Leeds, United Kingdom
    J Child Neurol 24:503-8. 2009
    ..a novel SCN1A mutation, one of whom had Panayiotopoulos syndrome and the other a phenotype consistent with generalized epilepsy with febrile seizures plus...
  50. ncbi Variation of the genes encoding the human glutamate EAAT2, serotonin and dopamine transporters and Susceptibility to idiopathic generalized epilepsy
    T Sander
    Department of Neurology, University Hospital Charite, Berlin, Germany
    Epilepsy Res 41:75-81. 2000
    ..81, d.f. = 1, P = 0.005) compared with the controls. The present findings strengthen previous evidence that genetic variation of the DAT gene modulates neuronal network excitability and contributes to the epileptogenesis of IAE...
  51. ncbi Subcortical nuclei volumetry in idiopathic generalized epilepsy
    Margitta Seeck
    Presurgical Epilepsy Evaluation Unit, Functional Neurology and Neurosurgery Program of the University Hospitals Lausanne and Geneva, Switzerland
    Epilepsia 46:1642-5. 2005
    The exact anatomic and neurophysiologic correlates of idiopathic generalized epilepsy (IGE) in humans are still not well understood, although the thalamus has frequently been invoked as the crucial structure in the generation of primary ..
  52. ncbi SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus
    Huihui Sun
    Peking University, First Hospital, No 1 Xian Men Street, Xicheng District, Beijing, 100034, People s Republic of China
    J Hum Genet 53:769-74. 2008
    b>Generalized epilepsy with febrile seizures plus (GEFS+; MIM#604233) is a familial epilepsy syndrome characterized by phenotypic and genetic heterogeneity...
  53. ncbi Efficacy and tolerability of zonisamide in idiopathic generalized epilepsy
    Ainhoa Marinas
    Fundacion Jimenez Diaz, Madrid, Spain
    Epileptic Disord 11:61-6. 2009
    ..The objective of this study is to evaluate the efficacy and safety of zonisamide (ZNS) for the treatment of idiopathic generalized epilepsies (IGEs)...
  54. ncbi Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations
    Paolo Bonanni
    Epilepsy, Neurophysiology, Neurogenetics Unit, IRCCS Fondazione Stella Maris, Pisa, Italy
    Epilepsia 45:149-58. 2004
    We describe seven Italian families with generalized epilepsy with febrile seizures plus (GEFS+), in which mutations of SCN1A, SCN1B, and GABRG2 genes were excluded and compare their clinical spectrum with that of previously reported GEFS+ ..
  55. pmc Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia
    A Escayg
    Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA
    Am J Hum Genet 66:1531-9. 2000
    ..The missense mutation C104F was identified both in a German family with generalized epilepsy and praxis-induced seizures and in a French Canadian family with episodic ataxia...
  56. ncbi Polygenic control of idiopathic generalized epilepsy phenotypes in the genetic absence rats from Strasbourg (GAERS)
    Gabrielle Rudolf
    INSERM U398, Faculty of Medicine, Strasbourg, France
    Epilepsia 45:301-8. 2004
    ..The GAERS (genetic absence rats from Strasbourg) strain, a well-characterized inbred model for idiopathic generalized epilepsy, spontaneously develops EEG paroxysms that resemble those of typical absence seizures...
  57. pmc A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation
    Bin Tang
    Department of Human Genetics, Emory University, 615 Michael Street, Atlanta, GA 30322, USA
    Neurobiol Dis 35:91-102. 2009
    ..in the voltage-gated sodium channel SCN1A are responsible for a number of seizure disorders including Generalized Epilepsy with Febrile Seizures Plus (GEFS+) and Severe Myoclonic Epilepsy of Infancy (SMEI)...
  58. ncbi Genetic dissection of photosensitivity and its relation to idiopathic generalized epilepsy
    Ulrike Tauer
    Clinic for Neuropaediatrics, University Clinics Schleswig Holstein, Campus Kiel, Kiel, Germany
    Ann Neurol 57:866-73. 2005
    ..Our study shows two PPR-related susceptibility loci, depending on the familial background of IGE. The locus on 6p21.2 seems to predispose to PPR itself, whereas the locus on 13q31.3 also confers susceptibility to IGE...
  59. ncbi Thalamic nuclei activity in idiopathic generalized epilepsy: an EEG-fMRI study
    L Tyvaert
    Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada
    Neurology 73:2018-22. 2009
    ..With the development of deep brain stimulation in epilepsy, the role of the thalamic nuclei needs to be clarified in human IGE...
  60. pmc Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus
    R H Wallace
    The Bionomics Women s and Children s Hospital Research Facility, Thebarton, South Australia, Australia, 5031
    Am J Hum Genet 68:859-65. 2001
    b>Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome characterized by the presence of febrile and afebrile seizures...
  61. ncbi Status epilepticus in idiopathic generalized epilepsy
    Simon Shorvon
    The Institute of Neurology, London, United Kingdom
    Epilepsia 46:73-9. 2005
    Status epilepticus (SE) can take various forms in idiopathic generalized epilepsy (IGE), some of which forms also occur in symptomatic or focal epilepsies...
  62. ncbi Association between the alpha(1a) calcium channel gene CACNA1A and idiopathic generalized epilepsy
    B Chioza
    Department of Psychological Medicine, Institute of Psychiatry, London, UK
    Neurology 56:1245-6. 2001
  63. ncbi Genetic variation of CACNA1H in idiopathic generalized epilepsy
    Sarah E Heron
    Ann Neurol 55:595-6. 2004
  64. ncbi The voltage-gated sodium channel gene SCN2A and idiopathic generalized epilepsy
    K Haug
    University Department of Human Genetics, Wilhelmstr 31, 53111 Bonn, Germany
    Epilepsy Res 47:243-6. 2001
    ..hypothesis that genetic variation in the human sodium channel gene SCN2A confers liability to idiopathic generalized epilepsy (IGE)...
  65. ncbi From molecules to networks: cortical/subcortical interactions in the pathophysiology of idiopathic generalized epilepsy
    Hal Blumenfeld
    Department of Neurology, Yale University School of Medicine, New Haven, Connecticut 06520, U S A
    Epilepsia 44:7-15. 2003
    b>Generalized epilepsy involves abnormally synchronized activity in large-scale neuronal networks...
  66. ncbi Candidate gene analysis of the succinic semialdehyde dehydrogenase gene (ALDH5A1) in patients with idiopathic generalized epilepsy and photosensitivity
    Susanne Lorenz
    Gene Mapping Center, Max Delbruck Center for Molecular Medicine, Robert Rossle Str 10, 13125 Berlin, Germany
    Neurosci Lett 397:234-9. 2006
    ..study tested whether variation of the ALDH5A1 gene confers susceptibility to common syndromes of idiopathic generalized epilepsy (IGE) and an abnormal photoparoxysmal response (PPR)...
  67. ncbi Measures of psychopathology in children with complex partial seizures and primary generalized epilepsy with absence
    D Ott
    Neuropsychiatric Institute, Los Angeles, CA, 90024, USA
    J Am Acad Child Adolesc Psychiatry 40:907-14. 2001
    ..examined psychopathology in 48 children with complex partial seizures (CPS), 39 children with primary generalized epilepsy with absence (PGE), and 59 nonepileptic children, aged 5 to 16 years, by comparing the Child Behavior ..
  68. ncbi Placebo-controlled study of levetiracetam in idiopathic generalized epilepsy
    S F Berkovic
    Epilepsy Research Center, Heidelberg Repatriation Hospital, Banksia Street, West Heidelberg, Victoria, Australia
    Neurology 69:1751-60. 2007
    ..To assess the efficacy and tolerability of adjunctive levetiracetam in patients with uncontrolled generalized tonic-clonic (GTC) seizures associated with idiopathic generalized epilepsies (IGE)...
  69. ncbi Regional effects of lamotrigine on cerebral glucose metabolism in idiopathic generalized epilepsy
    Eun Yeon Joo
    Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Irwon ong, Gangnam Gu, Seoul 135 710, Korea
    Arch Neurol 63:1282-6. 2006
    ..We performed (18)F-fluorodeoxyglucose positron emission tomography (PET) before and after lamotrigine administration to investigate its effects on cerebral glucose metabolism in patients with drug-naïve idiopathic generalized epilepsy.
  70. ncbi Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy
    Houman Khosravani
    Cellular and Molecular Neurobiology Research Group, Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta
    Ann Neurol 57:745-9. 2005
    ..2 T-type calcium channel gene (CACNA1H) in patients with idiopathic generalized epilepsy. None of the variants were associated with a specific epilepsy phenotype and were not found in patients ..
  71. ncbi Management guidelines for children with idiopathic generalized epilepsy
    Carol Camfield
    IWK Health Center, Halifax, Nova Scotia, Canada
    Epilepsia 46:112-6. 2005
    Most idiopathic generalized epilepsy (IGE) begins in childhood. Clinicians face many important management decisions for these children; however the existing literature provides little scientific guidance.
  72. ncbi Association of GABRG2 polymorphisms with idiopathic generalized epilepsy
    I Ching Chou
    Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan
    Pediatr Neurol 36:40-4. 2007
    ..These data suggest that the gamma2 subunit of the GABA receptor gene might be one of the susceptibility factors for idiopathic generalized epilepsies...
  73. ncbi Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B
    R H Wallace
    Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, North Adelaide, Australia
    Neurology 58:1426-9. 2002
    b>Generalized epilepsy with febrile seizures plus (GEFS(+)) is an important childhood genetic epilepsy syndrome with heterogeneous phenotypes, including febrile seizures (FS) and generalized epilepsies of variable severity...
  74. ncbi Why do seizures in generalized epilepsy often occur in the morning?
    R A B Badawy
    Department of Neurology, Austin Health, Heidelberg, Victoria 3084, Australia
    Neurology 73:218-22. 2009
    ..We used transcranial magnetic stimulation to investigate the effect of diurnal variability on cortical excitability in patients with epilepsy...
  75. ncbi Magnetic resonance spectroscopy and imaging of the thalamus in idiopathic generalized epilepsy
    A Bernasconi
    Department of Neurology and Neurosurgery, McGill University, Montreal Neurological Institute and Hospital, Montreal, Quebec, Canada
    Brain 126:2447-54. 2003
    Experimental work in animal models of generalized epilepsy and clinical data in humans with idiopathic generalized epilepsy (IGE) indicate that the thalamo-cortical circuitry is involved in the generation of epileptic activity...
  76. ncbi Eyelid myoclonia with absences (Jeavons syndrome): a well-defined idiopathic generalized epilepsy syndrome or a spectrum of photosensitive conditions?
    Salvatore Striano
    Epilepsy Center, Department of Neurological Sciences, Federico II University, Napoli, Italy
    Epilepsia 50:15-9. 2009
    ....
  77. ncbi Extended, one-stage callosal section for treatment of refractory secondarily generalized epilepsy in patients with Lennox-Gastaut and Lennox-like syndromes
    Arthur Cukiert
    Department of Neurology and Neurosurgery, Hospital Brigadeiro and São Paulo Epilepsy Clinic, R Dr Alceu Campos Rodrigues 247, 121 São Paulo SP, Brazil CEP 04544 000
    Epilepsia 47:371-4. 2006
    ..We report on the efficacy and safety of extended one-stage callosal section performed in a large and homogeneous series of patients...
  78. ncbi Juvenile myoclonic epilepsy--a generalized epilepsy syndrome?
    M J Koepp
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, UK
    Acta Neurol Scand Suppl 181:57-62. 2005
    Juvenile myoclonic epilepsy (JME) has been classified as a syndrome of idiopathic generalized epilepsy and is characterized by specific types of seizures, showing a lack of pathology using magnetic resonance imaging (MRI) and computed ..
  79. pmc A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy
    A Escayg
    Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA
    Am J Hum Genet 68:866-73. 2001
    ..mutations of the neuronal sodium-channel alpha-subunit gene, SCN1A, on chromosome 2q24 in two families with generalized epilepsy with febrile seizures plus (GEFS+) type 2...
  80. pmc A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33
    S Baulac
    INSERM U289, Hopital de la Salpetriere, Paris Cedex, France
    Am J Hum Genet 65:1078-85. 1999
    We report a clinical and genetic study of a family with a phenotype resembling generalized epilepsy with febrile seizures plus (GEFS+), described by Berkovic and colleagues...
  81. ncbi Genome scan of idiopathic generalized epilepsy: evidence for major susceptibility gene and modifying genes influencing the seizure type
    M Durner
    Department of Psychiatry, Mount Sinai Medical Center, New York, NY 10029, USA
    Ann Neurol 49:328-35. 2001
    Idiopathic generalized epilepsy (IGE) is a common, complex disease with an almost exclusively genetic etiology but with variable phenotypes. Clinically, IGE can be divided into different syndromes...
  82. ncbi Psychiatric comorbidity in adult patients with idiopathic generalized epilepsy
    Nozomi Akanuma
    Lambeth Rehabilitation Services, South London and Maudsley NHS Foundation Trust, London, UK
    Epilepsy Behav 13:248-51. 2008
    We reviewed the medical records of 157 adult (18 years) patients with firmly diagnosed idiopathic generalized epilepsy (IGE) to investigate the extent and the type of psychiatric comorbidity and its relationship to various IGE syndromes ..
  83. ncbi A GABAA receptor mutation causing generalized epilepsy reduces benzodiazepine receptor binding
    Marco Fedi
    Department of Medicine, The University of Melbourne, Austin Health Heidelberg, Victoria, Australia
    Neuroimage 32:995-1000. 2006
    ..receptor, which substitutes glutamine for arginine at position 43 (R43Q) has been found in a familial generalized epilepsy. We tested the hypothesis that individuals affected by the GABRG2(R43Q) mutation have reduced binding to ..
  84. ncbi Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families
    Carla Marini
    Epilepsy Research Institute, Department of Medicine Neurology The University of Melbourne, Austin Health, Victoria, Australia
    Epilepsia 45:467-78. 2004
    In families with idiopathic generalized epilepsy (IGE), multiple IGE subsyndromes may occur...
  85. ncbi The MR detection of neuronal depolarization during 3-Hz spike-and-wave complexes in generalized epilepsy
    Adam D Liston
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, UCL Queen Square, London WC1N 3BG, UK
    Magn Reson Imaging 22:1441-4. 2004
    Previously, an analysis of activations observed in a patient with idiopathic generalized epilepsy using electroencephalogram-correlated functional magnetic resonance imaging (MRI) during runs of 3-Hz generalized spike-wave discharge (GSWD)..
  86. pmc The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression
    Jing Qiong Kang
    Department of Neurology, Vanderbilt University Medical Center, Nashville, Tennessee 37212, USA
    J Neurosci 29:2845-56. 2009
    The GABA(A) receptor gamma2 subunit mutation, Q351X, associated with generalized epilepsy with febrile seizures plus (GEFS+), created a loss of function with homozygous expression...
  87. ncbi Convulsive disorder and genetic polymorphism. Association of idiopathic generalized epilepsy with haptoglobin polymorphism
    P Saccucci
    Department of Neurosciences, School of Medicine, University of Tor Vergata, Rome, Italy
    Neurogenetics 5:245-8. 2004
    ..We have studied two samples of children with idiopathic generalized epilepsy from two different Italian populations...
  88. ncbi CLCN2 and idiopathic generalized epilepsy
    Armin Heils
    Clinic of Epileptology and Institute of Human Genetics, University of Bonn, Bonn, Germany
    Adv Neurol 95:265-71. 2005
  89. ncbi Zonisamide decreases cortical excitability in patients with idiopathic generalized epilepsy
    Eun Yeon Joo
    Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Irwon dong, Gangnam Gu, Seoul 135 710, Republic of Korea
    Clin Neurophysiol 119:1385-92. 2008
    ..To evaluate changes in cortical excitability after long-term zonisamide (ZNS) administration...
  90. ncbi The epsilon theory: a novel synthesis of the underlying molecular and electrophysiological mechanisms of primary generalized epilepsy and the possible mechanism of action of valproate
    Marton Toth
    Centre for Postgraduate Education, University of Pecs, Szigeti ut 12, H 7624 Pecs, Hungary
    Med Hypotheses 64:267-72. 2005
    Primary generalized epilepsy may be the result of maldevelopment of central nervous system and each seizure may be the consequence of a neuronal maladaptation to an unknown stimulus using the paleospinothalamical tract due to an ..
  91. ncbi Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy
    Cécile Saint-Martin
    INSERM, U679 Neurologie et Thérapeutique Expérimentale, Paris, France
    Hum Mutat 30:397-405. 2009
    ..gene encoding the voltage-gated chloride channel CLC2 have been identified in patients with idiopathic generalized epilepsy (IGE). Yet the involvement of CLCN2 in epilepsy remains controversial...
  92. ncbi Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+)
    Ingrid E Scheffer
    Department of Medicine Neurology, The University of Melbourne, Austin Health, Melbourne, Victoria
    Epilepsia 46:41-7. 2005
  93. ncbi Association analysis of the Arg220His variation of the human gene encoding the GABA delta subunit with idiopathic generalized epilepsy
    Kirsten P Lenzen
    Gene Mapping Center, Max Delbruck Center for Molecular Medicine, Robert Rossle Str 10, 13125 Berlin, Germany
    Epilepsy Res 65:53-7. 2005
    ..The present association study tested whether the functional GABRD His220 allele confers susceptibility to common syndromes of idiopathic generalized epilepsy (IGE).
  94. pmc Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus
    Louise A Harkin
    Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, Adelaide, South Australia, Australia
    Am J Hum Genet 70:530-6. 2002
    ..Here we describe a family that has generalized epilepsy with febrile seizures plus (GEFS(+)), including an individual with severe myoclonic epilepsy of infancy, in ..
  95. ncbi Levetiracetam for the treatment of idiopathic generalized epilepsy with myoclonic seizures
    S Noachtar
    Epilepsy Centre, Department of Neurology, University of Munich, Marchioninistr 15, 81377 Munich, Germany
    Neurology 70:607-16. 2008
    Currently, there are no published randomized controlled trials evaluating the efficacy and safety of adjunctive antiepileptic therapy in idiopathic generalized epilepsy with myoclonic seizures.
  96. ncbi A novel locus for idiopathic generalized epilepsy in French-Canadian families maps to 10p11
    Peter Kinirons
    Centre for the Study of Brain Diseases, University of Montreal, Montreal, Canada
    Am J Med Genet A 146:578-84. 2008
    Idiopathic generalized epilepsy (IGE) has evidence of a strong genetic etiology. We conducted genomewide linkage analysis for genes responsible for familial IGE in French-Canadian pedigrees...
  97. ncbi Characteristic distribution of interictal brain electrical activity in idiopathic generalized epilepsy
    Bela Clemens
    Kenézy Gyula Memorial Hospital, Neurological Department, Debrecen, Hungary
    Epilepsia 48:941-9. 2007
    To demonstrate the anatomic localization of the cortical sources of the interictal EEG activity in human idiopathic generalized epilepsy (IGE).
  98. ncbi Entorhinal cortex MRI assessment in temporal, extratemporal, and idiopathic generalized epilepsy
    Neda Bernasconi
    Department of Neurology and Neurosurgery, McGill University, Montreal Neurological Institute and Hospital, Montreal, Quebec, Canada
    Epilepsia 44:1070-4. 2003
    ..The purpose of this study was to examine the specificity of EC atrophy in epilepsy...
  99. ncbi Prolonged cortical silent period after transcranial magnetic stimulation in generalized epilepsy
    R A Macdonell
    Department of Neurology, Austin and Repatriation Medical Centre, Heidelberg, Victoria, Australia
    Neurology 57:706-8. 2001
    ..of the CSP was used to assess the level of intracortical inhibition in patients with untreated idiopathic generalized epilepsy (IGE)...
  100. ncbi Lamotrigine decreases EEG synchronization in a use-dependent manner in patients with idiopathic generalized epilepsy
    B Clemens
    Kenézy Gyula Memorial Hospital, Department of Neurology, Epilepsy Center, Debrecen, Hungary
    Clin Neurophysiol 118:910-7. 2007
    ..To investigate the quantitative EEG effects of lamotrigine (LTG) monotherapy...
  101. ncbi A comparative study of obsessive-compulsive disorder and other psychiatric comorbidities in patients with temporal lobe epilepsy and idiopathic generalized epilepsy
    Banu Aslantas Ertekin
    Department of Psychiatry, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
    Epilepsy Behav 14:634-9. 2009
    Our aim was to assess the associations of temporal lobe epilepsy (TLE) and idiopathic generalized epilepsy (IGE) with comorbid psychiatric conditions, especially obsessive-compulsive disorder (OCD), in a comparative design...

Research Grants62

  1. Role of Intronic Variants Affecting Splicing in Juvenile Myoclonic Epilepsy
    Debra J Wolgemuth; Fiscal Year: 2010
    Juvenile Myoclonic Epilepsy (JME) is among the most common types of syndromes of Idiopathic Generalized Epilepsy (IGE) and has a complex genetic inheritance...
  2. The Role of Stress in a Genetically Predisposed Epilepsy Model
    NIKKI TAMARA SAWYER; Fiscal Year: 2013
    ..This proposal aims to investigate the relationship between a genetic predisposition to epilepsy and the stress response, with the goal of identifying new therapeutic targets for the treatment of epilepsy. ..
  3. The Role of Genome-Coded ME2 in Epilepsy
    David A Greenberg; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Idiopathic Generalized Epilepsy (IGE) is one of the most common forms of epilepsy, representing about 30% of all epilepsies;and, its etiology is considered to be mostly genetic...
  4. GABA(A) Receptor Assembly/Trafficking/Function and Epilepsy Missense Mutations
    ROBERT LOUDEN MACDONALD; Fiscal Year: 2013
    ..5% of the population worldwide, and genetic factors play an important role in the idiopathic generalized epilepsy syndromes (IGEs). Many monogenic mutations associated with IGEs are in ion channel genes...
  5. Combined Approach to Genetic Modifiers of Inherited Epilepsy
    Jennifer A Kearney; Fiscal Year: 2013
    ..This will contribute to understanding the basis of epilepsy with more complex inheritance and suggest novel therapeutic targets for the improved treatment of human patients ..
  6. Genetic Study of Common Forms of Epilepsy
    HAKON contact HAKONARSON; Fiscal Year: 2010
    ..genetic variants that confer susceptibility to common forms of epilepsy including i) forms of idiopathic generalized epilepsy (IGE) such as juvenile myoclonic epilepsy (JME), childhood absence epilepsy (CAE) and idiopathic epilepsy ..
  7. Evaluation of Scn8a as a target for the treatment of refractory epilepsy
    CHRISTOPHER DONALD MAKINSON; Fiscal Year: 2013
    ..These results will have important clinical implications and will facilitate additional translational studies. ..
  8. A mouse model of human idiopathic generalized epilepsy
    ANDREW P ESCAYG; Fiscal Year: 2011
    ..In order to understand the mechanism by which these deletions lead to seizure generation, we will generate and characterize mouse lines that carry the same deletions that were observed in the patients. ..
  9. Pathophysiology and treatment of GABRG2 nonsense epilepsy mutations
    ROBERT LOUDEN MACDONALD; Fiscal Year: 2013
    ..in GABAAR subunit genes (GABRs) coding for the 32, 11 and 4 GABAAR subunits are associated with idiopathic generalized epilepsy syndromes (IGEs)...
  10. Mechanisms of Gating in Voltage-dependent Sodium Channels
    Baron Chanda; Fiscal Year: 2013
    ..of sodium channel genes have been linked to disease conditions such as congenital long QT syndrome, generalized epilepsy and muscle myotonia...
  11. Scn8a and Seizure Resistance
    Alan L Goldin; Fiscal Year: 2012
    Several epilepsy syndromes, including severe myoclonic epilepsy in infancy (SMEI) and generalized epilepsy with febrile seizures plus (GEFS+), are caused by mutations in the voltage-gated sodium channels...
  12. Towards the development of a novel treatment for epilepsy
    ANDREW P ESCAYG; Fiscal Year: 2010
    ..Mutations in SCN1A, SCN2A, and SCN3A are associated with several epilepsy subtypes, including generalized epilepsy with febrile seizures plus (GEFS+) and severe myoclonic epilepsy of infancy (SMEI), a debilitating ..
  13. Sodium channels and neuronal excitability in chronic limbic epilepsy.
    Manoj K Patel; Fiscal Year: 2013
    ..as a result of Na channel mutations, are known to be responsible for a number of inherited forms of generalized epilepsy. Our central hypothesis is that alterations in the expression and physiology of Na channels that make ..
  14. Novel Treatment &Screening Strategies in Gamma-Hydroxybutyric Aciduria
    K Michael Gibson; Fiscal Year: 2013
    ..Accepted methodology is applied throughout (neuropharmacology, tandem mass spectrometry, neuropsychological batteries), although the use of noninvasive TMS in this disorder is novel. ..
  15. Sodium Channel Mutations that Cause Epilepsy
    Alan L Goldin; Fiscal Year: 2013
    ..are mutations in voltage-gated sodium channels, which cause a number of different syndromes including Generalized Epilepsy with Febrile Seizures Plus (GEFS+)...
  16. Drosophila Bang-sensitive Paralytic Mutants
    Mark A Tanouye; Fiscal Year: 2013
    ..In humans, such mutations are associated with three forms of epilepsy: GEFS+ (generalized epilepsy with febrile seizures plus), characterized by febrile seizures that persist beyond the age of 6y;SMEI (..
  17. The Effect of Cell Spectic Deletion of Na 1.1 on Seizure Gereration
    STACEY BEANNA BERNICE DUTTON; Fiscal Year: 2012
    ..Mutations in the VGSC SCN1A (protein name Nav1.1), underline two forms of epilepsy, Generalized Epilepsy with Febrile Seizures Plus (GEFS+) and Severe Myoclonic Epilepsy of Infancy (SMEI)...
  18. Novel role for SCN1b as a modulator of Kv4.2 channels and neuronal excitability
    YARIMAR CARRASQUILLO GARCIA; Fiscal Year: 2010
    ..Interestingly, a cysteine to tryptophan mutation (C121W) in SCN1b has been identified in patients with generalized epilepsy with febrile seizures plus (GEFS+) and in patients with temporal lobe epilepsy (TLE) and preliminary ..
  19. Whole-genome sequencing in multiplex epilepsy families
    Ruth Ottman; Fiscal Year: 2010
    ..g., focal or generalized epilepsy), or whether it appears to raise risk more generally...
  20. Multimodal Evaluation of Networks Underlying Photosensitive Epilepsy in Baboons
    Charles A Szabo; Fiscal Year: 2010
    ..for Biomedical Research (SFBR) to develop a neurophysiological and neuroimaging model of photosensitive, generalized epilepsy in the baboon...
  21. GABA-A Receptor Alpha 1 Subunit Mutations and Epilepsy
    Martin J Gallagher; Fiscal Year: 2013
    ..Mutations of the GABA--A receptor (GABAAR) alpha 1 subunit have recently been associated with idiopathic generalized epilepsy (IGE) syndromes...
  22. HEREDITARY DEFECTS IN HUMAN SODIUM CHANNELS
    ALFRED GEORGE; Fiscal Year: 2009
    ..molecular genetic screening in a large cohort of families segregating seizure phenotypes consistent with generalized epilepsy with febrile scizures plus (GEFS+), severe myoelonic epilepsy of infancy (SMEI) and other less well ..
  23. Baboon Model for Genetics of Human Generalized Epilepsy
    Jeff Williams; Fiscal Year: 2007
    ..Papio hamadryas cynocephalus, and their hybrids) as a nonhuman primate model for the genetics of primary generalized epilepsy in humans...
  24. Mice with Human SCN1A Alleles Generated by Recombinase-Mediated Cassette Exchange
    Jennifer A Kearney; Fiscal Year: 2010
    ..Mutations in SCN1A were first identified in Generalized Epilepsy with Febrile Seizures Plus (GEFS+), a benign, childhood-onset syndrome in which family members have febrile ..
  25. FAMILIAL RECURRENCE RISKS IN ABSENCE EPILEPSY
    Stephen Ryan; Fiscal Year: 2000
    Typical absence epilepsy (AE) is a distinctive form of idiopathic generalized epilepsy (IGE) that affects about 1/1000 Children by age 15...
  26. Stargazer: A Simple Genetic Model for Epilepsy
    VERITY LETTS; Fiscal Year: 2007
    ..Several mouse models with this form of spontaneous generalized epilepsy have been characterized and the mutated genes have been identified...
  27. MURINE KNOCKOUT MODEL OF 4-HYDROXYBUTYRIC ACIDURIA
    K Michael Gibson; Fiscal Year: 2009
    ..Our experimental approach possesses therapeutic import for human patients, and may have ramifications for understanding the fundamental mechanisms of epileptogenesis that extend far beyond SSADH deficiency. ..
  28. Altered Function of a GABA-A receptor epilepsy mutation
    Mathew Jones; Fiscal Year: 2007
    A genetic epilepsy syndrome called GEFS+ (Generalized Epilepsy with Febrile Seizures plus) is now known to be a common form of genetic epilepsy...
  29. The molecular and genetic basis of myoclonic epilepsy
    Louis Ptacek; Fiscal Year: 2006
    ..Familial adult myoclonic epilepsy (FAME) is a rare idiopathic generalized epilepsy characterized by autosomal dominant inheritance, adult onset, varying degrees of myoclonus in the limbs, ..
  30. SUBCORTICAL METABOLIC ALTERATIONS IN EPILEPSY
    Michael Sperling; Fiscal Year: 1992
    ..the subcortical-cortical functional relationships and underlying neuronal function in partial and generalized epilepsy in humans, and to extend the value of PET in clinical epilepsy...
  31. CEREBRAL GABA IN CRYPTOGENIC GENERALIZED EPILEPSY
    Edward Novotny; Fiscal Year: 2002
    ..both proton and carbon NMRS methods will further understanding of this important neurotransmitter's role in generalized epilepsy. Our general hypothesis is that intrinsic defects of GABA physiology and metabolism result in epilepsy in ..
  32. FACILITATION OF EPILEPTIC ACTIVITY BY SLEEP AND AROUSAL
    Beth Malow; Fiscal Year: 2003
    ..In Specific Aim 1, 120 subjects with partial or generalized epilepsy will undergo EEG-polysomnography in the General Clinical Research Center to characterize the relationship ..
  33. TRACING SEIZURE PATHWAYS USING QUANTITATIVE EEG
    David Sherman; Fiscal Year: 2002
    ..The overall goal is to obtain a better understanding of the functional anatomy and mechanisms underlying generalized epilepsy in its principal activation zones and to help discover effective anticonvulsant treatments for its remedy...
  34. EPILEPSY RESEARCH CENTER
    PETER KELLAWAY; Fiscal Year: 1991
    ....
  35. THALAMIC REGULATION OF EXPERIMENTAL GENERALIZED SEIZURES
    John Miller; Fiscal Year: 1990
    ..substrate regulating seizures not only would provide greater understanding of the basic processes of human generalized epilepsy, but also would have relevance to the study and development of antiepileptic drugs, since identification of ..
  36. GENETIC EPIDEMIOLOGY OF FAMILIAL EPILEPSY
    Ruth Ottman; Fiscal Year: 2001
    ..g., generalized epilepsy, localization-related epilepsy).
  37. Mechanisms by which T-type calcium channels increase seizure susceptibility
    Edward Perez Reyes; Fiscal Year: 2010
    ..One class of epilepsy is called idiopathic generalized epilepsy (IGE), because the cause is not known (idiopathic) and the seizures can alter activity throughout the brain ..
  38. Long-Term Outcomes of Childhood-Onset Epilepsy
    Anne Berg; Fiscal Year: 2006
    ..This in turn could help lessen the burdens associated with childhood-and adolescent-onset epilepsy for the individual, the family, and society as a whole. ..
  39. Development of High Throughput Assays for N-type Calcium Channels
    Edward Perez Reyes; Fiscal Year: 2007
    ..By targeting an important protein in the pain pathway, the research funded by this grant will provide tools that can be used to screen candidate compounds during the development of novel analgesics. [unreadable] [unreadable] [unreadable]..
  40. MOLECULAR ANALYSIS OF NEURONAL T TYPE CA++ CHANNELS
    Edward Perez Reyes; Fiscal Year: 2007
    ..Lead compounds will be sent to the NIH Anticonvulsant Drug Development Program for in vivo testing. These studies will test the hypothesis that more potent channel blockers are better antiepileptics and the importance of selectivity. ..
  41. HIGH FREQUENCY BURST FIRING IN VISUAL CORTEX
    Hal Blumenfeld; Fiscal Year: 2002
    ..The information provided by these studies may yield insights into the mechanisms of normal cortical rhythmic oscillations, and suggest new therapies for the therapeutic management of epileptic seizures. ..
  42. Pediatric Thought Disorder: Insights from Neuroimaging
    Rochelle Caplan; Fiscal Year: 2006
    ..abstract_text> ..
  43. Preventing spike-wave epileptogenesis: critical periods & neuroimaging biomarkers
    Hal Blumenfeld; Fiscal Year: 2010
    ..untreated animals. We will also investigate the anatomical basis of white matter DTI abnormalities through electron microscopy to determine changes in axons and myelin in affected regions. 2. ..
  44. THOUGHT DISORDER: A DEVELOPMENTAL DISABILITY IN EPILEPSY
    Rochelle Caplan; Fiscal Year: 2003
    ..and psychopathology in 6 - 18 year old children with complex partial seizure disorder (CPS), primary generalized epilepsy with absences (PGE), and normal children at baseline and 2 years later...
  45. PKA & PKC REGULATION OF NT2-N & RECOMBINANT GABARS
    Robert MacDonald; Fiscal Year: 2003
    ..7) The NT2 and NT2-N GABAR subtype protein phosphorylated by PKA and PKC. 8) The biophysical mechanisms PKA and PKC modification of NT2 and NT2-N GABAR currents. ..
  46. GABAA RECEPTOR CHANNEL ALTERATION BY PROLONGED SEIZURES
    Robert MacDonald; Fiscal Year: 2003
    ....
  47. MRS Detects Metabolic Dysfunction after Brain Injury
    Paul Vespa; Fiscal Year: 2009
    ..The knowledge from the proposed studies will have widespread application to critical care of neurotrauma patients. ..
  48. Post Traumatic Nonconvulsive Epileptiform Activity
    Paul Vespa; Fiscal Year: 2005
    ..The hypothesis and unique approach come at a crucial time of failed clinical trials and address an important new therapeutic target. ..
  49. TRAINING IN MOLECULAR NEUROBIOLOGY
    William Catterall; Fiscal Year: 2008
    ..The training program will integrate the substantial expertise of this group of faculty in a coordinated pre-doctoral and post-doctoral training effort. ..
  50. Genetics of Rolandic Epilepsy
    Deb Pal; Fiscal Year: 2008
    ..Furthermore, genetic discoveries from this research will stimulate discoveries in related severe idiopathic focal childhood epilepsies and neurodevelopmental biology. ..
  51. Examination of the role of LPIN2 variations in skin and bone inflammation
    Hatem El Shanti; Fiscal Year: 2007
    ..Understanding the mechanisms behind psoriasis and CRMO is very important for the development of appropriate therapy. [unreadable] [unreadable] [unreadable]..
  52. PROGNOSIS OF CHILDREN WITH A FIRST UNPROVOKED SEIZURE
    Shlomo Shinnar; Fiscal Year: 2002
    ....
  53. HULTICHANNEL PARAMETRIC ANALYSIS OF SEIZURE PROPAGATION
    GREGORY BERGEY; Fiscal Year: 2002
    ..Understanding the spatiotemporal relationships that produce seizure can provide important insights into epileptogenesis. ..
  54. PHARMACOGENOMIC STUDY OF ANTICONVULSANT THERAPY
    THOMAS FERRARO; Fiscal Year: 2003
    ....
  55. UNDERSTANDING STATUS EPILEPTICUS
    Jaideep Kapur; Fiscal Year: 2002
    ..4) Characterize the detailed pharmacological properties of dentate granule cell GABARs following SE. ..
  56. Epilepsy and Electrical Stimulation of the STN
    Fred Lado; Fiscal Year: 2005
    ..Moreover, the work described in this proposal will provide the investigator with an opportunity to acquire the necessary intellectual and technical skills be an independent investigator in translational i epilepsy research. ..
  57. Sodium Channel Dysfunction and Epilepsy
    Andrew Escayg; Fiscal Year: 2008
    ..demonstrated that missense mutations in the voltage-gated sodium channel gene, SCN1A, are responsible for Generalized Epilepsy with Febrile Seizures Plus type 2 (GEFSP2)...
  58. Outcomes of Perinatal Stroke
    Meredith Golomb; Fiscal Year: 2008
    ..During the last year of the study, she plans to apply for an R01 grant to set up a pilot clinical trial. [unreadable] [unreadable]..
  59. A MULTICENTER STUDY OF IDIOPATHIC GENERALIZED EPILEPSY
    David A Greenberg; Fiscal Year: 2010
    We made notable progress in finding the genetic causes of adolescent-onset idiopathic generalized epilepsy (IGE). During the last grant period, we: 1) Found 5 IGE-linked loci on chrs. 5p, 5q, 6, 8, &18. 2) Identified the chr...
  60. International Medical Conference of Congenital Hyperinsulinism
    Charles Stanley; Fiscal Year: 2006
    ..unreadable] [unreadable] [unreadable]..
  61. Ped Endocrine Career Development in Diabetes Research
    Charles Stanley; Fiscal Year: 2007
    ..The Program is strongly supported by access to a superb range of institutional resources, including the CHOP GCRC and the UPenn DERC. Request is made for 2 Appointee slots in this Program each year. ..
  62. A first-responder EEG device for seizure management in a nerve gas attack
    Scott Wilson; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..