infantile spasms

Summary

Summary: An epileptic syndrome characterized by the triad of infantile spasms, hypsarrhythmia, and arrest of psychomotor development at seizure onset. The majority present between 3-12 months of age, with spasms consisting of combinations of brief flexor or extensor movements of the head, trunk, and limbs. The condition is divided into two forms: cryptogenic (idiopathic) and symptomatic (secondary to a known disease process such as intrauterine infections; nervous system abnormalities; BRAIN DISEASES, METABOLIC, INBORN; prematurity; perinatal asphyxia; TUBEROUS SCLEROSIS; etc.). (From Menkes, Textbook of Child Neurology, 5th ed, pp744-8)

Top Publications

  1. ncbi Epileptic spasms in clusters without hypsarrhythmia in infancy
    Roberto Horacio Caraballo
    Servicio de Neurologia, Hospital de Ninos Prof Dr Juan P Garrahan, Buenos Aires, 2, Argentina
    Epileptic Disord 5:109-13. 2003
  2. ncbi Prospective study of first-choice topiramate therapy in newly diagnosed infantile spasms
    Li Ping Zou
    Department of Neurology, Beijing Children s Hospital, Capital University of Medical Sciences, Beijing, China
    Clin Neuropharmacol 29:343-9. 2006
  3. pmc Models for infantile spasms: an arduous journey to the Holy Grail
    Tallie Z Baram
    Ann Neurol 61:89-91. 2007
  4. ncbi Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms
    Yuko Shinozaki
    Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi cho, Kodaira, Japan
    Brain Dev 31:469-72. 2009
  5. pmc CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients
    H L Archer
    Department of Medical Genetics, Cardiff University, University Hospital of Wales, Cardiff, UK
    J Med Genet 43:729-34. 2006
  6. ncbi A proposal for case definitions and outcome measures in studies of infantile spasms and West syndrome: consensus statement of the West Delphi group
    Andrew L Lux
    Bath Unit for Research in Paediatrics, Royal United Hospital, Bath, United Kingdom
    Epilepsia 45:1416-28. 2004
  7. ncbi Risk of autism spectrum disorders after infantile spasms: a population-based study nested in a cohort with seizures in the first year of life
    Evald Saemundsen
    State Diagnostic and Counseling Center, Division of Autism and Communication Disorders, Kopavogur, Iceland
    Epilepsia 49:1865-70. 2008
  8. pmc Clinical profile and treatment of infantile spasms using vigabatrin and ACTH--a developing country perspective
    Shahnaz Ibrahim
    Medical College, The Aga Khan University, Stadium Road, Karachi 74800, Pakistan
    BMC Pediatr 10:1. 2010
  9. ncbi Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX
    Petter Strømme
    Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, North Adelaide, SA 5006, Australia
    Brain Dev 24:266-8. 2002
  10. ncbi Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia
    Chang Y Tsao
    Department of Pediatrics and Neurology, The Ohio State University, Columbus, Ohio, USA
    Am J Med Genet A 134:198-201. 2005

Detail Information

Publications256 found, 100 shown here

  1. ncbi Epileptic spasms in clusters without hypsarrhythmia in infancy
    Roberto Horacio Caraballo
    Servicio de Neurologia, Hospital de Ninos Prof Dr Juan P Garrahan, Buenos Aires, 2, Argentina
    Epileptic Disord 5:109-13. 2003
    ..spasms in clusters without hypsarrhythmia that start in the first year of life represent a subtype of infantile spasms that generally are refractory to AEDs...
  2. ncbi Prospective study of first-choice topiramate therapy in newly diagnosed infantile spasms
    Li Ping Zou
    Department of Neurology, Beijing Children s Hospital, Capital University of Medical Sciences, Beijing, China
    Clin Neuropharmacol 29:343-9. 2006
    This was a prospective open study to establish the efficacy, tolerability, and problems associated with the use of topiramate as first-choice drug in children with infantile spasms.
  3. pmc Models for infantile spasms: an arduous journey to the Holy Grail
    Tallie Z Baram
    Ann Neurol 61:89-91. 2007
  4. ncbi Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms
    Yuko Shinozaki
    Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi cho, Kodaira, Japan
    Brain Dev 31:469-72. 2009
    Mutations in the Aristaless-related homeobox (ARX) gene are associated with pleiotropic phenotypes including infantile spasms, mental retardation and dystonia...
  5. pmc CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients
    H L Archer
    Department of Medical Genetics, Cardiff University, University Hospital of Wales, Cardiff, UK
    J Med Genet 43:729-34. 2006
    To determine the frequency of mutations in CDKL5 in both male and female patients with infantile spasms or early onset epilepsy of unknown cause, and to consider whether the breadth of the reported phenotype would be extended by studying ..
  6. ncbi A proposal for case definitions and outcome measures in studies of infantile spasms and West syndrome: consensus statement of the West Delphi group
    Andrew L Lux
    Bath Unit for Research in Paediatrics, Royal United Hospital, Bath, United Kingdom
    Epilepsia 45:1416-28. 2004
    To reach a broad consensus on case definitions, outcomes, and outcome measures that will ease future study design and facilitate comparison of data from different studies of infantile spasms and West syndrome.
  7. ncbi Risk of autism spectrum disorders after infantile spasms: a population-based study nested in a cohort with seizures in the first year of life
    Evald Saemundsen
    State Diagnostic and Counseling Center, Division of Autism and Communication Disorders, Kopavogur, Iceland
    Epilepsia 49:1865-70. 2008
    ..Our objective was to determine whether infantile spasms were related to risk of ASD as compared to unprovoked seizures with onset in the first year of life after ..
  8. pmc Clinical profile and treatment of infantile spasms using vigabatrin and ACTH--a developing country perspective
    Shahnaz Ibrahim
    Medical College, The Aga Khan University, Stadium Road, Karachi 74800, Pakistan
    BMC Pediatr 10:1. 2010
    b>Infantile spasms represent a serious epileptic syndrome that occurs in the early infantile age. ACTH and Vigabatrin are actively investigated drugs in its treatment...
  9. ncbi Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX
    Petter Strømme
    Department of Cytogenetics and Molecular Genetics, Women s and Children s Hospital, North Adelaide, SA 5006, Australia
    Brain Dev 24:266-8. 2002
    ..Seventeen patients had infantile spasms. Other phenotypes included mild to moderate MR alone, or with combinations of dystonia, ataxia or autism...
  10. ncbi Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia
    Chang Y Tsao
    Department of Pediatrics and Neurology, The Ohio State University, Columbus, Ohio, USA
    Am J Med Genet A 134:198-201. 2005
    ..with Cri du chat syndrome associated with complex abnormalities in chromosome 5, dysmorphic features, flexor infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia in her brain...
  11. ncbi Infantile spasms in Down syndrome--effects of delayed anticonvulsive treatment
    Monika Maria Eisermann
    Department of Neuropediatrics, Hopital Saint Vincent de Paul, 82, avenue Denfert Rochereau, F 75674 Paris cedex 14, France
    Epilepsy Res 55:21-7. 2003
    To investigate the impact of treatment lag in infantile spasms (IS) on treatment response, occurrence of later epilepsy, and long-term cognition and behavior in patients with one single etiological entity, we examined 18 patients with ..
  12. ncbi Decreased cerebrospinal fluid levels of beta-endorphin and ACTH in children with infantile spasms
    S Nagamitsu
    Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume City, Japan
    J Neural Transm 108:363-71. 2001
    To investigate the pathophysiology of infantile spasms (IS), we measured the cerebrospinal fluid (CSF) levels of beta-endorphin (beta-EP), adrenocorticotropic hormone (ACTH), and corticotropin-releasing hormone (CRH) in 20 patients with ..
  13. ncbi Increased risk of death among children with Lennox-Gastaut syndrome and infantile spasms
    Andrew R Autry
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA
    J Child Neurol 25:441-7. 2010
    ..11). The mortality ratios for children with Lennox-Gastaut syndrome and infantile spasms were 13.92 and 11.91, respectively...
  14. ncbi Efficacy, tolerability, and kinetics of lamotrigine in infants
    Mohamad A Mikati
    Department of Pediatrics, Adult and Pediatric Epilepsy Program, American University of Beirut, New York City, New York 10022, USA
    J Pediatr 141:31-5. 2002
    ..To investigate the efficacy, tolerability, and kinetics of lamotrigine during the first year of life...
  15. ncbi Infantile spasms treated with the ketogenic diet: prospective single-center experience in 104 consecutive infants
    Amanda M Hong
    The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Epilepsia 51:1403-7. 2010
    In 2002, we reported our preliminary experience using the ketogenic diet (KD) for predominantly intractable infantile spasms (IS) in 23 infants...
  16. ncbi ACTH receptor (MC2R) promoter variants associated with infantile spasms modulate MC2R expression and responsiveness to ACTH
    Ying Xue Ding
    Department of Pediatrics, Chinese PLA General Hospital, Ministry of Health, Beijing, PR China
    Pharmacogenet Genomics 20:71-6. 2010
    Adrenocorticotropin hormone (ACTH) has been the standard treatment to infantile spasms (IS). However, the mechanism of ACTH therapy is still unclear. ACTH exerts the function via melanocortin 2 receptor (MC2R)...
  17. ncbi Genetic polymorphisms of MC2R gene associated with responsiveness to adrenocorticotropic hormone therapy in infantile spasms
    Zhan Li Liu
    Department of Neurology, Beijing Children s Hospital, Capital Medical University, Beijing 100045, China
    Chin Med J (Engl) 121:1627-32. 2008
    b>Infantile spasms is a severe epileptic encephalopathy, which is refractory to conventional antiepileptic drugs...
  18. ncbi The clinical problem of hyperinsulinemic hypoglycemia and resultant infantile spasms
    Anitha Kumaran
    Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, 30 Guilford St, London WC1N 1EH, United Kingdom
    Pediatrics 126:e1231-6. 2010
    ..b>Infantile spasms after exposure to HH is rare and has been described in only 1 previous report...
  19. ncbi Treatment of infantile spasms with sodium valproate followed by benzodiazepines
    Narong Auvichayapat
    Division of Pediatric Neurology, Department of Pediatrics, Faculty of Medicine, Khon Kaen University, Khon Kaen 40002, Thailand
    J Med Assoc Thai 90:1809-14. 2007
    To review the result of the infantile spasms' treatment with sodium valproate followed by nitrazepam or clonazepam.
  20. ncbi Surgery for symptomatic infant-onset epileptic encephalopathy with and without infantile spasms
    R Jonas
    Division of Neurosurgery, David Geffen School of Medicine, University of California, Los Angeles, USA
    Neurology 64:746-50. 2005
    Children undergoing surgery with infant-onset epilepsy were classified into those with medically refractory infantile spasms (IS), successfully treated IS, and no IS history, and the groups were compared for pre- and postsurgery clinical ..
  21. ncbi Infantile spasms in tuberous sclerosis complex: prognostic utility of EEG
    David A Muzykewicz
    Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    Epilepsia 50:290-6. 2009
    To assess cognitive and epilepsy outcomes in tuberous sclerosis complex (TSC) patients with a history of infantile spasms (IS), in relation to spasm history, electroencephalography (EEG) characteristics, genetic mutation, and treatment ..
  22. ncbi The influence of etiology upon ictal semiology, treatment decisions and long-term outcomes in infantile spasms and West syndrome
    Andrew L Lux
    Department of Paediatric Neurology, Bristol Royal Hospital for Children, Upper Maudlin Street, Bristol BS2 8BJ, UK
    Epilepsy Res 70:S77-86. 2006
    Studying infantile spasms is challenging because there are so many aspects of variation that introduce potential bias...
  23. ncbi Infantile spasms
    Eric H Kossoff
    Department of Neurology, The John M Freeman Pediatric Epilepsy Center, The Johns Hopkins Hospital, Baltimore, MD 21287, USA
    Neurologist 16:69-75. 2010
    b>Infantile spasms (West syndrome) is an epilepsy condition affecting 1 in 2000 infants. Perhaps no more worrisome neurologic disorder exists because of its frequent association with delayed development and cognition at such a young age...
  24. ncbi Model of infantile spasms induced by N-methyl-D-aspartic acid in prenatally impaired brain
    LIBOR VELISEK
    Saul R Korey Department of Neurology, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Ann Neurol 61:109-19. 2007
    b>Infantile spasms (a catastrophic epileptic syndrome of childhood) are insensitive to classic antiepileptic drugs. New therapies are limited by lack of animal models...
  25. ncbi Developmental and epilepsy outcomes at age 4 years in the UKISS trial comparing hormonal treatments to vigabatrin for infantile spasms: a multi-centre randomised trial
    Katrina Darke
    Royal United Hospital Bath NHS Trust, Combe Park, Bath, UK
    Arch Dis Child 95:382-6. 2010
    b>Infantile spasms is the name given to a difficult to treat, severe infantile epilepsy with high morbidity...
  26. ncbi Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex
    Suzanne Goh
    Massachusetts General Hospital, 175 Cambridge Street, Suite 340, Boston, MA 02114 3117, USA
    Neurology 65:235-8. 2005
    To assess intellectual outcomes in a clinic-based population of patients with tuberous sclerosis complex (TSC) who also have a history of infantile spasms (IS) and to identify clinical risk factors for mental retardation in these patients.
  27. ncbi Immunohistochemical analysis of brainstem lesions in infantile spasms
    M Hayashi
    Department of Clinical Neuropathology, Tokyo Metropolitan Institute for Neuroscience, Japan
    Neuropathology 20:297-303. 2000
    Whether the cerebral or subcortical lesions are involved in the pathogenesis in infantile spasms (IS) remains to be determined...
  28. pmc Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11
    Christian R Marshall
    Program in Genetics and Genomic Biology and The Centre for Applied Genomics, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada
    Am J Hum Genet 83:106-11. 2008
    b>Infantile spasms (IS) is the most severe and common form of epilepsy occurring in the first year of life. At least half of IS cases are idiopathic in origin, with others presumed to arise because of brain insult or malformation...
  29. ncbi The underlying etiology of infantile spasms (West syndrome): information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification
    John P Osborne
    the School for Health, University of Bath, Claverton Down, Bath, United Kingdom
    Epilepsia 51:2168-74. 2010
    To examine the underlying etiology of infantile spasms from the United Kingdom Infantile Spasms Study (UKISS), using the pediatric adaptation of ICD 10.
  30. ncbi West's syndrome
    W Donald Shields
    Division of Pediatric Neurology, UCLA School of Medicine, Los Angeles, CA 90095 1752, USA
    J Child Neurol 17:S76-9. 2002
    West's syndrome (infantile spasms) can be considered the classic disorder of the catastrophic childhood epilepsies. Although West's syndrome was identified 160 years ago, it is still not fully understood today...
  31. ncbi Neurosteroids and infantile spasms: the deoxycorticosterone hypothesis
    Michael A Rogawski
    Epilepsy Research Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA
    Int Rev Neurobiol 49:199-219. 2002
    ..Also, the therapeutic activity of ACTH in infantile spasms could partially relate to its stimulatory effects on the synthesis of DOC, which then undergoes ..
  32. ncbi Magnetic resonance imaging findings in infantile spasms: etiologic and pathophysiologic aspects
    Sema Saltik
    Department of Neurology, Division of Child Neurology, Istanbul University, Cerrahpasa Medical Faculty, Istanbul, Turkey
    J Child Neurol 18:241-6. 2003
    An etiologic evaluation of 86 patients with infantile spasms is presented and the place of cranial magnetic resonance imaging (MRI) findings within this spectrum is discussed...
  33. ncbi Low-dose topiramate is effective in the treatment of infantile spasms
    Meng Ying Hsieh
    Division of Pediatric Neurology, Department of Pediatrics, Chang Gung Children s Hospital, Chang Gung University Medical Collage, Taoyuan, Taiwan, ROC
    Chang Gung Med J 29:291-6. 2006
    Management of infantile spasms is difficult because current treatment regimens, including many anticonvulsants and hormones, are often ineffective...
  34. ncbi Autism spectrum disorders in children with a history of infantile spasms: a population-based study
    Evald Saemundsen
    Division of Autism and Communication Disorders, State Diagnostic and Counseling Center, Kopavogur, Iceland
    J Child Neurol 22:1102-7. 2007
    The objective of this article is to describe autistic spectrum disorders in children diagnosed with infantile spasms in the first year of life. The source of data was the records of all 3 pediatric departments in Iceland...
  35. ncbi Levetiracetam monotherapy in newly diagnosed cryptogenic West syndrome
    Hakan Gumus
    Department of Pediatric Neurology, Erciyes University School of Medicine, Kayseri, Turkey
    Pediatr Neurol 37:350-3. 2007
    ..There were no relapses in the two patients at 6 months after the cessation of seizures. It appears that levetiracetam may be effective in the initial treatment of selected patients with cryptogenic West syndrome...
  36. ncbi Long-term response to zonisamide in patients with West syndrome
    Y Suzuki
    Division of Pediatric Neurology, Osaka Medical Center and Research Institute for Maternal and Child Health, Murodo cho, Izumi, Japan
    Neurology 58:1556-9. 2002
    ..No serious adverse reactions were noted. ZNS may be both effective and well tolerated for the treatment of West syndrome...
  37. ncbi Polyalanine expansion of ARX associated with cryptogenic West syndrome
    M Kato
    Department of Human Genetics, The University of Chicago, IL 60637, USA
    Neurology 61:267-76. 2003
  38. ncbi Spectrum of epilepsy in terminal 1p36 deletion syndrome
    Nadia Bahi-Buisson
    Department of Pediatric Neurology, Hopital Necker Enfants Malades, AP HP, Universite Paris V, Paris, France, and INSERM, U663, Paris, France
    Epilepsia 49:509-15. 2008
    ..Previous reports have summarized the seizures types occurring in 1p36 deletion syndrome. To better define the spectrum of epilepsy, we studied 91 patients (median age 7.8 years) with confirmed 1p36 deletion...
  39. pmc CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms
    E Scala
    Medical Genetics, Departement of Molecular Biology, University of Siena, Siena, Italy
    J Med Genet 42:103-7. 2005
    ..In this variant, the normal perinatal period is soon followed by the appearance of seizures, usually infantile spasms. We have observed two patients with signs of Rett syndrome showing acquired microcephaly and stereotypic ..
  40. ncbi Pathogenesis of infantile spasms: a model based on developmental desynchronization
    James D Frost
    Peter Kellaway Section of Neurophysiology, Department of Neurology, Baylor College of Medicine, Houston, Texas, USA
    J Clin Neurophysiol 22:25-36. 2005
    b>Infantile spasms is a severe epileptic encephalopathy of infancy. The fundamental cause is unknown, although a number of predisposing conditions are recognized...
  41. pmc A model of symptomatic infantile spasms syndrome
    Morris H Scantlebury
    Saul R Korey Department of Neurology, Laboratory of Developmental Neurology, and Montefiore Einstein Epilepsy Management Center, USA
    Neurobiol Dis 37:604-12. 2010
    b>Infantile spasms are characterized by age-specific expression of epileptic spasms and hypsarrhythmia and often result in significant cognitive impairment. Other epilepsies or autism often ensue especially in symptomatic IS (SIS)...
  42. ncbi Combined treatment with vigabatrin and topiramate in West syndrome
    Sabrina Buoni
    Department of Pediatrics, Obstetric and Reproductive Medicine, Policlinico Le Scotte, University of Siena, Italy
    J Child Neurol 19:385-6. 2004
    ..Because control of infantile spasms or an EEG improvement was not obtained with vigabatrin treatment, topiramate was added (3-3.8 mg/kg/day)...
  43. ncbi Lennox-Gastaut syndrome (childhood epileptic encephalopathy)
    Omkar N Markand
    Department of Neurology, Indiana University School of Medicine, University Hospital Room 1711, 550 North University Boulevard, Indianapolis, IN 46202, USA
    J Clin Neurophysiol 20:426-41. 2003
    ..Twenty percent of all patients with LGS have prior infantile spasms with hypsarrythmia. The characteristic interictal EEG pattern of LGS is 1.5 to 2...
  44. ncbi Infantile epileptic encephalopathy with hypsarrhythmia (infantile spasms/West syndrome)
    Richard A Hrachovy
    Peter Kellaway Section of Neurophysiology, Department of Neurology and Division of Neuroscience, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, U S A
    J Clin Neurophysiol 20:408-25. 2003
    b>Infantile spasms is a unique disorder peculiar to infancy and early childhood. In this article, the clinical manifestations and electroencephalographic features of the disorder are described...
  45. ncbi Nitrazepam for refractory infantile spasms and the Lennox-Gastaut syndrome
    M C Chamberlain
    University of California San Diego, La Jolla, 92093 0812, USA
    J Child Neurol 11:31-4. 1996
    b>Infantile spasms and the Lennox-Gastaut syndrome are considered to be age-specific pediatric epileptic syndromes and together constitute a significant percentage of medically resistant seizures in childhood...
  46. ncbi Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter
    Jun Tohyama
    Department of Pediatrics, Epilepsy Center, Nishi Niigata Chuo National Hospital, 1 14 1 Masago, Nishi ku, Niigata City, Niigata 950 2085, Japan
    Brain Dev 30:349-55. 2008
    ..are impaired visual attention, acquired microcephaly, spastic tetraplegia, profound psychomotor delay and infantile spasms since early infancy...
  47. ncbi Vigabatrin-associated reversible MRI signal changes in patients with infantile spasms
    Aphrodite Dracopoulos
    Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada
    Epilepsia 51:1297-304. 2010
    To evaluate the magnetic resonance imaging (MRI) of pediatric patients with infantile spasms (IS) treated with vigabatrin (VGB) in order to investigate whether VGB affects the brain.
  48. ncbi Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms
    R H Wallace
    Centre for Medical Genetics, Department of Laboratory Genetics, Women s and Children s Hospital, North Adelaide, Australia
    Neurology 61:765-9. 2003
    ..b>Infantile spasms (IS), or West syndrome, is a severe epileptic encephalopathy that is usually symptomatic...
  49. pmc A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death
    Ilya M Nasrallah
    Neuroscience Program, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    J Cell Biol 167:411-6. 2004
    ..expansions in the Aristaless-related homeobox (ARX) protein have been identified in a subset of patients with infantile spasms and mental retardation...
  50. ncbi Infantile spasms and Lennox-Gastaut syndrome
    Edwin Trevathan
    Pediatric Epilepsy Center, St Louis Children s Hospital, MO 63110 1093, USA
    J Child Neurol 17:2S9-2S22. 2002
    b>Infantile spasms and Lennox-Gastaut syndrome are rare but are important to child neurologists because of the intractable nature of the seizures and the serious neurologic comorbidities...
  51. ncbi Infantile spasms: a U.S. consensus report
    John M Pellock
    Division of Child Neurology, Department of Neurology, Virginia Commonwealth University School of Medicine, Richmond, Virginia 23298, USA
    Epilepsia 51:2175-89. 2010
    The diagnosis, evaluation, and management of infantile spasms (IS) continue to pose significant challenges to the treating physician...
  52. pmc Topiramate and adrenocorticotropic hormone (ACTH) as initial treatment for infantile spasms
    Bradley Peltzer
    Division of Neurology, Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    J Child Neurol 24:400-5. 2009
    Historically, adrenocorticotropic hormone was used as a first-line treatment for infantile spasms; however, there has been increasing use of topiramate as initial therapy...
  53. ncbi Infantile spasms as an epileptic feature of DEND syndrome associated with an activating mutation in the potassium adenosine triphosphate (ATP) channel, Kir6.2
    Nadia Bahi-Buisson
    Department of Paediatric Neurology and Metabolic Disease, Hopital Necker Enfants Malades, Paris, France
    J Child Neurol 22:1147-50. 2007
    ..This article reports a girl who developed infantile spasms and early onset diabetes mellitus at the age of 3 months and revealed DEND syndrome with a heterozygous ..
  54. ncbi Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation
    Ilaria Bertani
    Dipartimento di Biologia Strutturale e Funzionale, Universita dell Insubria, 21052 Busto Arsizio VA, Italy
    J Biol Chem 281:32048-56. 2006
    ..kinase-like 5 (CDKL5) gene have been identified in patients with Rett syndrome, West syndrome, and X-linked infantile spasms sharing the common features of generally intractable early seizures and mental retardation...
  55. ncbi X-linked mental retardation and epilepsy: pathogenetic significance of ARX mutations
    Shinichi Hirose
    Department of Pediatrics, School of Medicine, Fukuoka University, 45 1, 7 chome Nanakuma, Jonan ku, Fukuoka 814 0180, Japan
    Brain Dev 25:161-5. 2003
    ..These findings provide solid evidence for the relationship between MR and epilepsy at a molecular level, opening a new avenue for understanding the pathogeneses of MR associated with epilepsy...
  56. ncbi Pathophysiology of infantile spasms
    Harry T Chugani
    Division of Pediatric Neurology and PET Center Children s Hospital of Michigan, Wayne State University, Detroit 48201, USA
    Adv Exp Med Biol 497:111-21. 2002
    b>Infantile spasms--seen in West's Syndrome--are often associated with cortical abnormalities. The spasms themselves, however, appear to be generated subcortically. Dr...
  57. ncbi Cryptogenic late-onset epileptic spasms: an overlooked syndrome of early childhood?
    Monika M Eisermann
    Department of Clinical Neurophysiology, Saint Vincent de Paul Hospital, Paris, France
    Epilepsia 47:1035-42. 2006
    ....
  58. pmc A case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis
    Jung Mu Lee
    Department of Pediatrics, Dongguk University College of Medicine, Gyeongju, Korea
    J Korean Med Sci 21:954-7. 2006
    ..due to the presence of psychomotor retardation, megalencephaly, spasticity, and recurrent seizures including infantile spasms which is a remarkable presentation...
  59. ncbi Leptomeningeal angiomatosis with infantile spasms
    Sahoko Miyama
    Department of Neurology, Tokyo Metropolitan Kiyose Children s Hospital, Tokyo, Japan
    Pediatr Neurol 31:353-6. 2004
    We describe a 7-month-old female with leptomeningeal angiomatosis who developed infantile spasms. She did not manifest facial nevus or ocular choroidal angioma...
  60. ncbi The epidemiology of infantile spasms
    P M Brna
    Department of Pediatrics, Dalhousie University and the IWK Health Centre, Halifax, Nova Scotia, Canada
    Can J Neurol Sci 28:309-12. 2001
    OBJECTIVE: The aim of this study was to estimate population based incidence rates for infantile spasms (IS) and to study our clinical impression that the incidence of IS has recently decreased in the Canadian Provinces of Nova Scotia and ..
  61. ncbi Spontaneous remission of spasms in West syndrome--implications of viral infection
    H Hattori
    Department of Pediatrics, Kyoto University School of Medicine, 54 Kawahara-cho, Shogoin, Sakyo-ku, Kyoto 606-8507, Japan. hhat2kuhp.kyoto-u.ac.jp
    Brain Dev 23:705-7. 2001
    ..Better understanding of such mechanisms may lead to a new therapeutic approach to West syndrome...
  62. ncbi Topiramate in children with west syndrome: a retrospective multicenter evaluation of 100 patients
    Rudolf Korinthenberg
    Division of Neuropediatrics and Muscular Disorders, Department of Pediatrics and Adolescent Medicine, University Hospital, Freiburg, Germany
    J Child Neurol 22:302-6. 2007
    ..In conclusion, the data suggest that topiramate is a useful drug in treating West syndrome. However, because of the inherent limitations of the retrospective study design, future prospective controlled studies should be performed...
  63. pmc The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex
    F J K O'Callaghan
    Department of Paediatric Neurology, Bristol Royal Hospital for Children, Institute of Child Health, Upper Maudlin Street, Bristol BS2 8BJ, UK
    Arch Dis Child 89:530-3. 2004
    The aetiology of the learning difficulty in tuberous sclerosis is debated. It may be related to the amount of tubers in the brain or caused by the infantile spasms that occur in early life.
  64. ncbi Efficacy of the ketogenic diet for infantile spasms
    Eric H Kossoff
    Department of Neurology, Pediatric Epilepsy Center, Johns Hopkins Medical Institutions, Baltimore, Maryland, USA
    Pediatrics 109:780-3. 2002
    The objective of this study was to determine whether the ketogenic diet is safe, well-tolerated, and efficacious in the treatment of infantile spasms.
  65. ncbi Surgical treatment of West syndrome
    E Asano
    Department of Pediatrics, Children's Hospital of Michigan and Detroit Medical Center, Wayne State University School of Medicine, Detroit, MI 48201, USA
    Brain Dev 23:668-76. 2001
    ..infants with West syndrome has led to a surgical approach in the treatment of some patients with intractable infantile spasms. The locations of these lesions should be concordant with localization of focal ictal and/or interictal ..
  66. ncbi ACTH therapy of West syndrome: Finnish views
    R Riikonen
    Department of Child Neurology, Kuopio University, Hospital, P O B 1777, Kuopio 70211, Finland
    Brain Dev 23:642-6. 2001
    ..ACTH should be used as the first choice for treatment of West syndrome (at the minimal effective dose and for shortest effective time). The side effects of steroids, unlike VGB, are well known, treatable, and reversible...
  67. ncbi Infantile spasms with basal ganglia MRI hypersignal may reveal mitochondrial disorder due to T8993G MT DNA mutation
    I Desguerre
    Service de Neuropediatrie, Hopital Saint Vincent de Paul, 74 Avenue Denfert Rochereau, 75014 Paris, France
    Neuropediatrics 34:265-9. 2003
    To report three cases of infantile spasms (IS) with an abnormal magnetic resonance imaging signal in the basal ganglia (Leigh-like syndrome), due to T8993G mt DNA mutation.
  68. ncbi [Methylmalonic aciduria associated with myoclonic convulsions, psychomotor retardation and hypsarrhythmia]
    J Guevara-Campos
    Servicio de Pediatria, Hospital Felipe Guevara R, Universidad de Oriente, El Tigre Anzoategui, Venezuela
    Rev Neurol 36:735-7. 2003
    ..However, the association of MMA with electrical activity of the brain characterised by a hypsarrhythmic pattern, refractory convulsions and psychomotor retardation is very rare...
  69. ncbi Early-infantile epileptic encephalopathy with suppression-bursts, Ohtahara syndrome; its overview referring to our 16 cases
    Yasuko Yamatogi
    Department of Welfare System and Health Science, Faculty of Health and Welfare Science, Okayama Prefectural University, 111 Kuboki Soja City, Okayama Prefecture, 719 1197, Japan
    Brain Dev 24:13-23. 2002
    ..Namely, these syndromes may be the age-specific epileptic reaction to various non-specific exogenous brain insults, acting at the specific developmental stages...
  70. ncbi Gender-specific occurrence of West syndrome in patients with pyruvate dehydrogenase complex deficiency
    E Naito
    Department of Pediatrics, School of Medicine, University of Tokushima, Tokushima, Japan
    Neuropediatrics 32:295-8. 2001
    ..05). Lactate concentrations in blood and CSF should be measured in female patients with West syndrome as a screening test for PDHC deficiency, because of gender-specific occurrence of West syndrome caused by PDHC deficiency...
  71. ncbi Hurler's syndrome, West's syndrome, and vitamin D-dependent rickets
    Marco A Gudiño
    Neurology Department, Unitat Integrada Hospital San Joan de Déu Clinic, Universitat de Barcelona, Spain
    J Child Neurol 17:149-51. 2002
    ..To our knowledge, this is the first report of a patient demonstrating an association among mucopolysaccharidosis 1, West's syndrome, and vitamin D-dependent rickets...
  72. ncbi Extremely low-dose ACTH step-up protocol for West syndrome: maximum therapeutic effect with minimal side effects
    Hirokazu Oguni
    Department of Pediatrics, Tokyo Women s Medical University, Tokyo 162, Japan
    Brain Dev 28:8-13. 2006
    ..The dose of ACTH required to control WS appears to be unexpectedly smaller than the dose we previously used...
  73. ncbi Prognostic value of positron emission tomography in cryptogenic West syndrome
    Kazuya Itomi
    Department of Paediatrics, Nagoya University School of Medicine, Japan
    Dev Med Child Neurol 44:107-11. 2002
    ..PET may be a useful tool in evaluating the prognosis in infants with cryptogenic West syndrome...
  74. ncbi Low-dose ACTH therapy for West syndrome: initial effects and long-term outcome
    M Ito
    Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Japan
    Neurology 58:110-4. 2002
    ..In this multi-institutional study, the authors analyzed the initial effects, adverse effects, and long-term outcome in patients treated with low-dose synthetic ACTH in Japan...
  75. ncbi Immunologic aspects of West syndrome and evidence of plasma inhibitory effects on T cell function
    Terezinha C B Montelli
    Departamento de Neurologia e Psiquiatria, Faculdade de Medicina, Universidade Estadual Paulista, Botucatu, SP, Brasil
    Arq Neuropsiquiatr 61:731-7. 2003
    ..Thus, WS was studied at different points of the natural evolutive history of the disease...
  76. ncbi Brain malformation and infantile spasms in a SCAD deficiency patient
    Mohamad A Mikati
    Department of Pediatrics, American University of Beirut Medical Center, Beirut, Lebanon
    Pediatr Neurol 36:48-50. 2007
    ..A (CoA) dehydrogenase deficiency with a previously unreported presentation with brain malformations and infantile spasms. This female infant developed repeated tonic clonic seizures at the age of 3(1/2) months...
  77. ncbi [West's syndrome. Analysis, aetiological factors and therapeutic options]
    J Campistol
    Servicio de Neurologia, Unitat Integrada Hospital Sant Joan de Deu Clinic, Universitat de Barcelona, Barcelona, Espana
    Rev Neurol 37:345-52. 2003
    ..If there is no response then topiramate can be used. Other therapeutic options, such as the use of zonisamide, a ketogenic diet or even surgical treatment, are also analyzed...
  78. ncbi Diagnosis of infantile spasms, Lennox-Gastaut syndrome, and progressive myoclonic epilepsy
    W Donald Shields
    Division of Pediatric Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, U S A
    Epilepsia 45:2-4. 2004
    ..b>Infantile spasms, Lennox-Gastaut syndrome, and the progressive myoclonic epilepsies are correlated with significant disability ..
  79. ncbi Surgical treatment of two patients with infantile spasms in early infancy
    Hoon Chul Kang
    Department of Pediatrics, Epilepsy Center, Sang gye Paik Hospital, Inje University College of Medicine, Sang gye 7 Dong 761 1, No won Gu, Seoul 139 707, South Korea
    Brain Dev 28:453-7. 2006
    ..We report two patients who had infantile spasms and underwent surgery for epilepsy in early infancy (younger than 6 months old)...
  80. ncbi Ganaxolone for treating intractable infantile spasms: a multicenter, open-label, add-on trial
    J F Kerrigan
    Barrow Neurological Institute, 500 W Thomas Road, S 930, Phoenix, AZ 85013, USA
    Epilepsy Res 42:133-9. 2000
    ..trial, investigating the safety and efficacy of ganaxolone (GNX) in a population of children with refractory infantile spasms, or with continuing seizures after a prior history of infantile spasms...
  81. ncbi Infantile spasms
    M Wong
    Pediatric Epilepsy Center, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO 63110-1093, USA
    Pediatr Neurol 24:89-98. 2001
    b>Infantile spasms constitute both a distinctive seizure type and an age-specific epilepsy syndrome that have been extensively described for over a century...
  82. pmc Lennox gastaut syndrome, review of the literature and a case report
    Tareq Abu Saleh
    Department of Oral Medicine and Periodontics, University of the Western Cape, Cape Town, South Africa
    Head Face Med 4:9. 2008
    ..Children affected might previously have infantile spasms or underlying brain disorder but etiology can be idiopathic...
  83. ncbi The United Kingdom Infantile Spasms Study comparing vigabatrin with prednisolone or tetracosactide at 14 days: a multicentre, randomised controlled trial
    Andrew L Lux
    Royal United Hospital Bath NHS Trust and the School for Health, University of Bath, Bath, UK
    Lancet 364:1773-8. 2004
    b>Infantile spasms, which comprise a severe infantile seizure disorder, have a high morbidity and are difficult to treat...
  84. ncbi Effect of multiple subpial transection on patients with uncontrolled atypical infantile spasms
    Min Fei Chuang
    Department of Neurology, Buddhist Tzu Chi General Hospital, Hualien, Taiwan, Republic of China
    Epilepsia 47:659-60. 2006
    We report a favorable outcome of multiple sub-pial transaction (MST) in two patients who had intractable atypical infantile spasms preceded by partial seizures, without any lateralized magnetic resonance imaging (MRI) abnormalities.
  85. ncbi Treatment of infantile spasms with zonisamide
    S Yanai
    Department of Pediatric Neurology, Fukuoka Children s Hospital, Japan
    Brain Dev 21:157-61. 1999
    We determined the efficacy of and tolerability to zonisamide (ZNS) in newly diagnosed patients with infantile spasms. ZNS, 4-20 mg/kg per day, was introduced as an add-on therapy or monotherapy in 27 children with infantile spasms (..
  86. pmc Practice parameter: medical treatment of infantile spasms: report of the American Academy of Neurology and the Child Neurology Society
    M T Mackay
    Royal Children s Hospital, Victoria, Australia
    Neurology 62:1668-81. 2004
    To determine the current best practice for treatment of infantile spasms in children.
  87. ncbi Combination of infantile spasms, non-epileptic seizures and complex movement disorder: a new case of ARX-related epilepsy
    Karine Poirier
    Institut Cochin, INSERM U567, UMR 8104, Universite Rene Descartes, Paris V, France
    Epilepsy Res 80:224-8. 2008
    ..in the ARX gene are responsible for a wide variety of mental retardation conditions including X-linked infantile spasms (ISSX) and generalized dystonia...
  88. ncbi An atypical case of Aicardi syndrome with favorable outcome
    Seung Woo Lee
    Department of Ophthalmology, Dongguk University College of Medicine, Kyongju, Korea
    Korean J Ophthalmol 18:79-83. 2004
    Aicardi syndrome is a severe congenital disorder characterized by infantile spasms, chorioretinal lacunae, and agenesis or hypogenesis of the corpus callosum...
  89. ncbi Herpes simplex virus central nervous system relapse during treatment of infantile spasms with corticotropin
    Joshua L Bonkowsky
    Division of Pediatric Neurology, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, Utah, USA
    Pediatrics 117:e1045-8. 2006
    ..At 7 months of age, the patient developed infantile spasms and was treated with corticotropin injections...
  90. ncbi Long-term cognitive outcomes of a cohort of children with cryptogenic infantile spasms treated with high-dose adrenocorticotropic hormone
    Sara Kivity
    Pediatric Epilepsy Unit and EEG Laboratory, Schneider Children s Medical Center of Israel, Petah Tiqva
    Epilepsia 45:255-62. 2004
    To evaluate the outcome of children with cryptogenic infantile spasms treated with high-dose synthetic adrenocorticotropic hormone (ACTH) and the relation between early treatment, within 1 month of onset, and outcome.
  91. ncbi A case-control evaluation of the ketogenic diet versus ACTH for new-onset infantile spasms
    Eric H Kossoff
    Department of Neurology, John M Freeman Pediatric Epilepsy Center, Johns Hopkins Medical Institutes, Baltimore, Maryland 21287 1000, USA
    Epilepsia 49:1504-9. 2008
    ACTH is currently the standard first-line therapy for new-onset infantile spasms, but it has significant side effects...
  92. ncbi Topiramate for the treatment of infantile spasms
    Syed A Hosain
    Division of Pediatric Neurology, New York Presbyterian Hospital, Weill Medical College of Cornell University, Department of Pediatric Neurology, NY 10021, USA
    J Child Neurol 21:17-9. 2006
    ..Reports on the use of topiramate for treatment of infantile spasms are limited...
  93. ncbi Ketogenic diet for treatment of infantile spasms
    So Hee Eun
    Department of Pediatrics, Ansan Hospital, Korea University College of Medicine, Ansan, Republic of Korea
    Brain Dev 28:566-71. 2006
    ..study sought to evaluate the efficacy, tolerability, and safety of a ketogenic diet (KD) in the treatment of infantile spasms (IS), incorporating a revised protocol based on our previous experience with KD...
  94. ncbi Zonisamide treatment for symptomatic infantile spasms
    Timothy E Lotze
    Texas Children s Hospital, Baylor College of Medicine, Houston, TX 77030, USA
    Neurology 62:296-8. 2004
    The authors evaluated zonisamide for symptomatic infantile spasms in 23 patients. Spasm cessation, EEG evolution, and tolerability were assessed for a mean duration of 6.5 months...
  95. ncbi Infantile spasms: therapy and outcome
    Raili Riikonen
    Department of Child Neurology, Children s Hospital, University of Kuopio, Kuopio, Finland
    J Child Neurol 19:401-4. 2004
    Up-to date information about corticotropin (ACTH) in the treatment of infantile spasms and evaluation of the long-term outcome was provided to answer questions about (1) the efficacy of doses of ACTH in comparison with other drugs, ..
  96. ncbi Evaluation of open-label topiramate as primary or adjunctive therapy in infantile spasms
    Li Ping Zou
    Department of Neurology, Beijing Children s Hospital, The Capital Medical University, Beijing, China
    Clin Neuropharmacol 31:86-92. 2008
    A multicenter open-label clinical trial was conducted to evaluate the clinical usefulness of topiramate (TPM) as primary or adjunctive therapy for infantile spasms in the postmarketing period in China.
  97. ncbi A risk-benefit assessment of treatments for infantile spasms
    R Nabbout
    Department of Neuropediatrics, Hĵpital St Vincent de Paul, Paris, France
    Drug Saf 24:813-28. 2001
    b>Infantile spasms are a devastating epileptic encephalopathy of the young child. The continuing spasms and hypsarrhythmia have a deleterious effect on brain maturation and further cognitive development...
  98. ncbi Randomized trial of vigabatrin in patients with infantile spasms
    R D Elterman
    Dallas Pediatric Neurology Associates, The Center for Epilepsy Treatment, Medical City Dallas Hospital, Texas 75230, USA
    Neurology 57:1416-21. 2001
    b>Infantile spasms are a rare but devastating pediatric epilepsy that, outside the United States, is often treated with vigabatrin. The authors evaluated the efficacy and safety of vigabatrin in children with recent-onset infantile spasms.
  99. ncbi Use of ACTH and prednisolone in infantile spasms: experience from a developing country
    Matloob Azam
    Children s Hospital, Pakistan Institute of Medical Sciences, Islamabad, Pakistan
    Seizure 14:552-6. 2005
    Adrenocorticotrophic hormone (ACTH) and prednisone are both used to treat infantile spasms (IS) in West syndrome...
  100. ncbi Low-dose lamotrigine in West syndrome
    Carlo Cianchetti
    Child Neuropsychiatry, University of Cagliari, Via Ospedale 119, I 09124 Cagliari, Italy
    Epilepsy Res 51:199-200. 2002
    ..This suggests the advisability of a trial with low-dose LTG, at least in symptomatic WS resistant to one or two first line drugs. Moreover, it may be of speculative interest as regards pathogenetic mechanisms in some cases of WS...
  101. ncbi West syndrome: a university hospital based study from Oman
    R Koul
    Division of Pediatric Neurology, Department of Child Health, Sultan Qaboos University Hospital, P B No 38, Al Khod 123, Oman
    Brain Dev 23:586-92. 2001
    Forty-four children (20 male: 24 female) with West syndrome (infantile spasms, mental retardation/regression and hypsarrhythmia) diagnosed at Sultan Qaboos University Hospital (Pediatric Neurology Division of the Department of Child ..

Research Grants45

  1. Attenuating the retinal and CNS adverse effects of vigabatrin with NKCC1 inhibito
    Frances E Jensen; Fiscal Year: 2010
    ..b>Infantile spasms is a subgroup of epilepsy and has an incidence of approximately 1 per 2000 live births, with seizures being ..
  2. Novel mechanism-based treatments for infantile spasms
    LIBOR VELISEK; Fiscal Year: 2010
    ..b>Infantile spasms (IS) represent a devastating epilepsy syndrome of childhood...
  3. Characterization of neuronal gene regulatory elements associated with epilepsy
    Nadav Ahituv; Fiscal Year: 2013
    ..the gene regulatory networks that are involved in brain development can lead to epilepsy subtypes such as infantile spasms (IS). However, the regulatory elements of brain expressed genes involved in IS are unknown...
  4. The role of brainstem in the generation of infantile spasms
    Aristea S Galanopoulou; Fiscal Year: 2010
    b>Infantile spasms are an age-specific epileptic syndrome manifesting as clusters of spasms, impaired neurocognitive development, and often evolution to intractable epilepsy...
  5. ARX related Interneuron dysfunction and intractable pediatric epilepsy
    Eric D Marsh; Fiscal Year: 2013
    ..homeobox gene (ARX), a developmental transcription factor, have been shown to cause X-linked infantile spasms syndrome and other early epileptic encephalopathies...
  6. Biology of developmental encephalopathies presenting with infantile spasms
    Alexander R Paciorkowski; Fiscal Year: 2013
    ..Research The proposed project addresses infantile spasms - a significant cause of neurologic morbidity in the pediatric population, and for which new therapies are ..
  7. Screening for new therapies for refractory infantile spasms
    Aristea S Galanopoulou; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Infantile spasms (IS) are epileptic seizures with distinct pharmacosensitivity that manifest in a spectrum of epileptic encephalopathies of infancy with poor prognosis in terms of subsequent cognitive ..
  8. Seizure generation and network excitability in Arx related Infantile Spasms
    Eric D Marsh; Fiscal Year: 2013
    ..knowledge of the mechanisms involved in generating seizures and intellectual disabilities in children with infantile spasms syndrome (ISS), one of the early epileptic encephalopathies...
  9. Role of interneuronal and cholinergic defects in epileptic Arx mutant mice
    ELLIOT BOURGEOIS; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Infantile spasms syndrome (ISS) is a devastating form of epilepsy that is poorly understood. One genetic mutation leading to ISS is a polyalanine expansion in the ARX gene...
  10. 4 of 7: Epi4K: Epileptic Encephalopathies Project
    Elliott Sherr; Fiscal Year: 2013
    ..b>Infantile Spasms (IS) and Lennox Gastaut Syndrome (LGS), to understand how these mutations fit into a broader network of ..
  11. REGULATION OF SECRETION OF POMC PEPTIDES IN BRAIN
    LEONARD KAPCALA; Fiscal Year: 1991
    ..peptides, and could lead to studies elucidating their CNS function and models indicating whether alterations in regulation of POMC peptide metabolism produce or exacerbate CNS disorders (schizophrenia, SIDS, seizures, infantile spasms).
  12. Altered balance of excitation and inhibition in a model of Infantile Spasm Epilep
    Yasmin Escobedo-Lozoya; Fiscal Year: 2013
    ..We hypothesize that failure of this maturational process can lead to epileptic disorders such as Infantile Spasms syndrome (IS or West syndrome), a group of devastating childhood epileptic encephalopathies...
  13. Model of Idiopathic Infantile Spasms
    LIBOR VELISEK; Fiscal Year: 2009
    b>Infantile spasms belong to catastrophic epilepsy syndromes of childhood. These epilepsies are intractable to treatment and are associated with progressive cognitive decline...
  14. Epileptogenesis in a rat model of tuberous sclerosis
    Adriana Emmi; Fiscal Year: 2003
    ..of TS patients have epilepsy, often occurring early in development as such difficult-to-control syndromes as infantile spasms. While insights into TS have been greatly advanced by our understanding of the underlying genes (TSC1 and ..
  15. Gene Discovery in Aicardi Syndrome: A Special Case of Callosal Agenesis
    Elliott Sherr; Fiscal Year: 2009
    ..eye development for which the hallmark signs are agenesis of the corpus callosum, chorioretinal lacunae and infantile spasms. These patients also frequently have other brain malformations that include polymicrogyria, subcortical and ..
  16. Neural Substrates /Socioemotional Disturbances /Develop.
    Ludise Malkova; Fiscal Year: 2003
    ..This aim is directed to the understanding why certain seizure disorders in infants (e.g., infantile spasms) give rise to autism...
  17. EPILEPSY RESEARCH CENTER
    PETER KELLAWAY; Fiscal Year: 1991
    ..video-tape system is utilized to evaluate the effectiveness of the ACTH fragment (4-9) in the treatment of infantile spasms and to determine if the effectiveness of ACTH is mediated via the adrenal axis or by direct action on the ..
  18. Analysis of Tuberous Sclerosis Complex in Zebrafish
    Michael Taylor; Fiscal Year: 2007
    ..is a common feature of TSC, with at least 90% of affected individuals generating seizures ranging from infantile spasms to complex partial seizures...
  19. EFFECT OF HIGH-DOSE VS LOW-DOSE ACTH ON INFANTILE SPASMS
    RICHARD HRACHOVY; Fiscal Year: 1992
    ..of low-dose/short-duration ACTH therapy in stopping the seizures and improving the EEGs of patients who have infantile spasms. A single-blind design will be used, and approximately 60 patients with infantile spasms will be studied ..
  20. A new animal model of infantile spasms
    SOLOMON MOSHE; Fiscal Year: 2008
    ..b>Infantile spasms are an age-specific epileptic disorder characterized by repetitive seizures (spasms), specific EEG ..
  21. EFFECTS OF EARLY-LIFE EXPERIENCE: ROLE OF CRH
    TALLIE BARAM; Fiscal Year: 2003
    ..Thus, these studies will set the stage for early intervention, with a promise of influencing the consequences of early-life experience on neurobiological correlates of stress throughout life. ..
  22. Febrile Seizure Model: Neuronal Injury and Mechanisms
    Tallie Z Baram; Fiscal Year: 2005
    ..abstract_text> ..
  23. Neuroactive Steroid Therapy of Catamenial Epilepsy
    DOODIPALA REDDY; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable] [unreadable]..
  24. MRI predicts epileptogenesis and cognitive deficits
    TALLIE BARAM; Fiscal Year: 2005
    ..abstract_text> ..
  25. 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]..
  26. Sequenom MassARRAY High Throughput System
    Mark Leppert; Fiscal Year: 2002
    ..Many of these projects will need to test 50 to 100 candidate genes in up to 5,000 human DNA samples. A significant reduction in cost will lead to faster gene discoveries important for medical science. ..
  27. PEDIATRIC LOW VISION
    WILLIAM GOOD; Fiscal Year: 2002
    ..Do strabismus and anisometropia affect different visual functions differentially? Is the combination of risk-factors more amblyogenic? ..
  28. GENE EXPRESSION AND CLONALITY IN DYSPLASTIC CORTICAL NEU
    Peter Crino; Fiscal Year: 2002
    ..Furthermore, by identifying altered expression of select genes, the relationship between FCD and various mental disorders can be discerned. These analyses may point toward new avenues for therapy. ..
  29. GENETIC EPIDEMIOLOGY OF FAMILIAL EPILEPSY
    Ruth Ottman; Fiscal Year: 2001
    ..g., generalized epilepsy, localization-related epilepsy). ..
  30. DEVELOPMENTAL PATHOGENESIS OF HUMAN CORTICAL DYSPLASIA
    Peter Crino; Fiscal Year: 2003
    ..Furthermore, in identifying alterations in specific genes, the relationship between FCD and mental disorders can be rendered. These analyses may point toward new avenues for therapy. ..
  31. SEXUAL DIMORPHISM IN SEIZURE CONTROL
    JANA VELISKOVA; Fiscal Year: 2002
    ..Rats of both sexes and various ages will be used. These studies may lead to the development of new antiepileptic treatments that take into the account sexual age-related differences. ..
  32. 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. ..
  33. Cellular Proliferation and Epileptogenesis
    Peter Crino; Fiscal Year: 2004
    ..abstract_text> ..
  34. Molecular pathogenesis of focal cortical dysplasias
    Peter B Crino; Fiscal Year: 2010
    ..These studies provide a targeted, pathway directed strategy to identify altered protein expression, gene transcription, and gene sequence that lead to the formation of FCD and HMEG during brain development. ..
  35. Epileptogenicity in the Developing Brain
    Raman Sankar; Fiscal Year: 2007
    ..Our findings will provide the basis for future neuroprotective interventions targeting the developing brain at different stages of status epilepticus in order to interrupt the course of the epileptogenic process. ..
  36. The Effects of Prematurity on Visual Development
    WILLIAM GOOD; Fiscal Year: 2008
    ..A comparison of head ultrasound and DTI findings will demonstrate whether DTI should replace ultrasound for the diagnosis of neurological injury in the newborn nursery. [unreadable] [unreadable]..
  37. EARLY TMT RETINOPATHY OF PREMATURITY HEADQUARTER GRANT
    WILLIAM GOOD; Fiscal Year: 2008
    ..Outcome will be determined at a 6 month post-term ophthalmologic examination and at a 9 month post-term visual assessment examination. ..
  38. Research Training in Inherited Neurological Disease
    Mark Leppert; Fiscal Year: 2006
    ....
  39. GENETIC EPIDEMIOLOGY OF SEIZURE DISORDERS IN ROCHESTER
    Ruth Ottman; Fiscal Year: 2006
    ..abstract_text> ..
  40. Prenatal Corticosteroid Impact on Hippocampus
    LIBOR VELISEK; Fiscal Year: 2004
    ..The data of this proposal will be critical for determining long-term adverse effects of multiple course prenatal corticosteroid therapy and for the ameliorating these effects in the offspring. ..
  41. Alzheimer's Disease in Down Syndrome: Antioxidant Trial
    Ira Lott; Fiscal Year: 2005
    ..The pilot trial should also contribute information as to the possible role of antioxidants in the treatment or prevention of AD in the general population. ..
  42. GENETICS OF AD PARTIAL EPILEPSY WITH AUDITORY FEATURES
    Ruth Ottman; Fiscal Year: 2007
    ..abstract_text> ..
  43. Quantitative multimodal analyses in pediatric epilepsy surgery
    Eishi Asano; Fiscal Year: 2008
    ..If funded, the applicant will achieve the necessary training in an excellent environment to develop into an independent investigator. [unreadable] [unreadable]..
  44. Sexual dimorphism in seizure control is KCC2 mediated
    ARISTEA GALANOPOULOU; Fiscal Year: 2007
    ..Albert Einstein College of Medicine will offer the necessary mentoring, laboratory space, equipment and training opportunities to achieve these goals. ..