SCN1A

Summary

Gene Symbol: SCN1A
Description: sodium voltage-gated channel alpha subunit 1
Alias: EIEE6, FEB3, FEB3A, FHM3, GEFSP2, HBSCI, NAC1, Nav1.1, SCN1, SMEI, sodium channel protein type 1 subunit alpha, sodium channel protein type I subunit alpha, sodium channel protein, brain I alpha subunit, sodium channel voltage gated type 1 alpha subunit, sodium channel, voltage-gated, type I, alpha polypeptide, sodium channel, voltage-gated, type I, alpha subunit, voltage-gated sodium channel subunit alpha Nav1.1
Species: human

Top Publications

  1. ncbi The spectrum of SCN1A-related infantile epileptic encephalopathies
    Louise A Harkin
    Department of Genetic Medicine, Women s and Children s Hospital, North Adelaide, South Australia
    Brain 130:843-52. 2007
  2. ncbi Voltage-gated sodium channel Nav1.1, Nav1.3 and beta1 subunit were up-regulated in the hippocampus of spontaneously epileptic rat
    Feng Guo
    Department of Pharmaceutical Toxicology, School of Pharmaceutical Science, China Medical University, Shenyang 110001, China
    Brain Res Bull 75:179-87. 2008
  3. pmc Self-limited hyperexcitability: functional effect of a familial hemiplegic migraine mutation of the Nav1.1 (SCN1A) Na+ channel
    Sandrine Cestele
    Department of Neurophysiopathology, Besta Neurological Institute, 20133 Milan, Italy
    J Neurosci 28:7273-83. 2008
  4. doi Pure haploinsufficiency for Dravet syndrome Na(V)1.1 (SCN1A) sodium channel truncating mutations
    Giulia Bechi
    Department of Neurophysiopathology, Besta Foundation Neurological Institute, Milan, Italy
    Epilepsia 53:87-100. 2012
  5. ncbi Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures
    T Sugawara
    Laboratory for Neurogenetics, Brain Science Institute, RIKEN, Wako, Saitama, Japan
    Neurology 57:703-5. 2001
  6. doi How do mutant Nav1.1 sodium channels cause epilepsy?
    David S Ragsdale
    Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, 3801 University Street, Montreal, Quebec, Canada H3A 2B4
    Brain Res Rev 58:149-59. 2008
  7. pmc Alternative splicing modulates inactivation of type 1 voltage-gated sodium channels by toggling an amino acid in the first S3-S4 linker
    Emily V Fletcher
    Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London WC1N 3BG, United Kingdom
    J Biol Chem 286:36700-8. 2011
  8. doi The developmental changes of Na(v)1.1 and Na(v)1.2 expression in the human hippocampus and temporal lobe
    Wenze Wang
    Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan
    Brain Res 1389:61-70. 2011
  9. doi Calmodulin and calcium differentially regulate the neuronal Nav1.1 voltage-dependent sodium channel
    Christelle Gaudioso
    INSERM U641, Institut Jean Roche, Marseille F 13344, France
    Biochem Biophys Res Commun 411:329-34. 2011
  10. pmc Single-channel properties of human NaV1.1 and mechanism of channel dysfunction in SCN1A-associated epilepsy
    Carlos G Vanoye
    Division of Genetic Medicine, Department of Medicine, Vanderbilt University, Nashville, TN 37232, USA
    J Gen Physiol 127:1-14. 2006

Research Grants

  1. The Role of Stress in a Genetically Predisposed Epilepsy Model
    NIKKI TAMARA SAWYER; Fiscal Year: 2013
  2. Evaluation of Scn8a as a target for the treatment of refractory epilepsy
    CHRISTOPHER DONALD MAKINSON; Fiscal Year: 2013
  3. Scn8a and Seizure Resistance
    Alan L Goldin; Fiscal Year: 2012
  4. Towards the development of a novel treatment for epilepsy
    ANDREW P ESCAYG; Fiscal Year: 2010
  5. Identification of Epilepsy Modifier Genes in a Mouse Model
    Nicole A Hawkins; Fiscal Year: 2013
  6. The Effect of Cell Spectic Deletion of Na 1.1 on Seizure Gereration
    STACEY BEANNA BERNICE DUTTON; Fiscal Year: 2012
  7. ANDREW P ESCAYG; Fiscal Year: 2014
  8. Jennifer A Kearney; Fiscal Year: 2016
  9. Therapeutic effects of ketogenic diet in a mouse model of severe myoclinic epilep
    Franck K Kalume; Fiscal Year: 2013
  10. Alfred L George; Fiscal Year: 2015

Detail Information

Publications185 found, 100 shown here

  1. ncbi The spectrum of SCN1A-related infantile epileptic encephalopathies
    Louise A Harkin
    Department of Genetic Medicine, Women s and Children s Hospital, North Adelaide, South Australia
    Brain 130:843-52. 2007
    ..and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established...
  2. ncbi Voltage-gated sodium channel Nav1.1, Nav1.3 and beta1 subunit were up-regulated in the hippocampus of spontaneously epileptic rat
    Feng Guo
    Department of Pharmaceutical Toxicology, School of Pharmaceutical Science, China Medical University, Shenyang 110001, China
    Brain Res Bull 75:179-87. 2008
    ..The results of this study may be of value in revealing components of the molecular mechanisms of hippocampal excitation that are related to genetic epilepsy...
  3. pmc Self-limited hyperexcitability: functional effect of a familial hemiplegic migraine mutation of the Nav1.1 (SCN1A) Na+ channel
    Sandrine Cestele
    Department of Neurophysiopathology, Besta Neurological Institute, 20133 Milan, Italy
    J Neurosci 28:7273-83. 2008
    ..Mutations causing FHM (type 3) have been identified in SCN1A, the gene encoding neuronal voltage-gated Na(v)1...
  4. doi Pure haploinsufficiency for Dravet syndrome Na(V)1.1 (SCN1A) sodium channel truncating mutations
    Giulia Bechi
    Department of Neurophysiopathology, Besta Foundation Neurological Institute, Milan, Italy
    Epilepsia 53:87-100. 2012
    Dravet syndrome (DS), a devastating epileptic encephalopathy, is mostly caused by mutations of the SCN1A gene, coding for the voltage-gated Na(+) channel Na(V)1.1 α subunit. About 50% of SCN1A DS mutations truncate Na(V)1...
  5. ncbi Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures
    T Sugawara
    Laboratory for Neurogenetics, Brain Science Institute, RIKEN, Wako, Saitama, Japan
    Neurology 57:703-5. 2001
    Recent evidence has suggested that the neuronal voltage-gated sodium channel alpha(1)-subunit gene (Na(v)1.1: SCN1A) is responsible for generalized epilepsy with febrile seizures plus (GEFS+2)...
  6. doi How do mutant Nav1.1 sodium channels cause epilepsy?
    David S Ragsdale
    Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, 3801 University Street, Montreal, Quebec, Canada H3A 2B4
    Brain Res Rev 58:149-59. 2008
    ..1-mediated whole cell sodium currents in GABAergic neurons, resulting in widespread loss of brain inhibition, an ideal background for the genesis of epileptic seizures...
  7. pmc Alternative splicing modulates inactivation of type 1 voltage-gated sodium channels by toggling an amino acid in the first S3-S4 linker
    Emily V Fletcher
    Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London WC1N 3BG, United Kingdom
    J Biol Chem 286:36700-8. 2011
    ..These data suggest that splicing at this site can modify the inactivation of sodium channels and reveal a possible interaction between splicing and anti-epileptic drugs that stabilize sodium channel inactivation...
  8. doi The developmental changes of Na(v)1.1 and Na(v)1.2 expression in the human hippocampus and temporal lobe
    Wenze Wang
    Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan
    Brain Res 1389:61-70. 2011
    Alterations of the genes encoding α1 and α2 subunits of voltage-gated sodium channels (SCN1A, SCN2A) have been reported as causes of various types of epilepsy, most of which occur during the first year of life; as yet, however, the ..
  9. doi Calmodulin and calcium differentially regulate the neuronal Nav1.1 voltage-dependent sodium channel
    Christelle Gaudioso
    INSERM U641, Institut Jean Roche, Marseille F 13344, France
    Biochem Biophys Res Commun 411:329-34. 2011
    ..Fluorescence spectroscopy measurements suggested that Ca(++) could bind the Nav1.1 C-terminal region with micromolar affinity...
  10. pmc Single-channel properties of human NaV1.1 and mechanism of channel dysfunction in SCN1A-associated epilepsy
    Carlos G Vanoye
    Division of Genetic Medicine, Department of Medicine, Vanderbilt University, Nashville, TN 37232, USA
    J Gen Physiol 127:1-14. 2006
    ..generalized epilepsy with febrile seizures plus (GEFS+) and severe myoclonic epilepsy of infancy (SMEI) occur in SCN1A encoding the NaV1.1 neuronal sodium channel alpha-subunit...
  11. pmc Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy
    Erin J McArdle
    Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee
    Am J Med Genet A 146:2421-3. 2008
  12. 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+)...
  13. 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
  14. 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
    We recently described 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...
  15. pmc De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy
    L Claes
    Department of Molecular Genetics, University of Antwerp, B 2610 Antwerpen, Belgium
    Am J Hum Genet 68:1327-32. 2001
    ..Missense mutations in the gene that codes for a neuronal voltage-gated sodium-channel alpha-subunit (SCN1A) were identified in families with generalized epilepsy with febrile seizures plus (GEFS+)...
  16. 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
    ..GEFS+ has previously been linked to mutations in two genes encoding the voltage-gated sodium channel alpha-subunit (SCN1A) and beta1-subunit (SCN1B). We studied a large family with FS and partial as well as generalized seizure types.
  17. ncbi Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy
    Iori Ohmori
    Department of Child Neurology, Graduate School of Medicine and Dentistry, Okayama University, Shikata cho 2 5 1, Okayama Shi, Okayama 700 8558, Japan
    Biochem Biophys Res Commun 295:17-23. 2002
    ..between genotype and phenotype of epilepsy, we analyzed the voltage-gated sodium channel alpha1-subunit (SCN1A) gene, beta1-subunit (SCN1B) gene, and gamma-aminobutyric acid(A) receptor gamma2-subunit (GABRG2) gene in DNAs ..
  18. 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
    ..epilepsy syndrome, mutations in three genes coding for voltage-gated sodium channel alpha or beta1 subunits (SCN1A, SCN2A, SCN1B) and one GABA receptor subunit gene (GABRG2) have been identified...
  19. ncbi Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures
    Tateki Fujiwara
    National Epilepsy Centre, Shizuoka Medical Institute of Neurological Disorders, Shizuoka, Japan
    Brain 126:531-46. 2003
    ..Mutations of the neuronal voltage-gated sodium channel alpha subunit type 1 gene (SCN1A) were recently reported in SMEI patients...
  20. ncbi Sodium channels SCN1A, SCN2A and SCN3A in familial autism
    L A Weiss
    Department of Human Genetics, University of Michigan, 4708 Medical Science II, Ann Arbor, MI 48109 0618, USA
    Mol Psychiatry 8:186-94. 2003
    ..Mutations in two of these genes, SCN1A and SCN2A, result in the seizure disorder GEFS+...
  21. ncbi The lack of association between febrile convulsions and polymorphisms in SCN1A
    I Ching Chou
    Department of Pediatrics, China Medical College Hospital, No 2 Yuh Der Road, Taichung, Taiwan
    Epilepsy Res 54:53-7. 2003
    ..Recent studies provided evidence that mutations in SCN1A represent the most frequent cause of generalized epilepsy with febrile seizures plus an autosomal-dominant ..
  22. ncbi De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy
    Lieve Claes
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology VIB, Born Bunge Foundation, University of Antwerp UIA, Antwerpen, Belgium
    Hum Mutat 21:615-21. 2003
    ..Recently, we described de novo mutations of the neuronal sodium channel alpha-subunit gene SCN1A in seven isolated SMEI patients...
  23. ncbi Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity
    Elena Gennaro
    Laboratory of Human Genetics, E O Galliera Hospital, Genova, Italy
    Epileptic Disord 5:21-5. 2003
    ..Recently, mutations in SCN1A and GABRG2 have been described in SMEI patients...
  24. ncbi Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents
    Takashi Sugawara
    Laboratory for Neurogenetics, Brain Science Institute, RIKEN, 2 1 Hirosawa, Wako, Saitama 351 0198, Japan
    Epilepsy Res 54:201-7. 2003
    ..Nonsense, frameshift, and missense mutations of SCN1A gene encoding the voltage-gated Na(+) channel alpha-subunit type I (Na(v)1...
  25. ncbi Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A
    Christoph Lossin
    Neuroscience Graduate Program, Department of Medicine, Vanderbilt University, Nashville, Tennessee 37232 0275, USA
    J Neurosci 23:11289-95. 2003
    Mutations in SCN1A, the gene encoding the brain voltage-gated sodium channel alpha1 subunit (NaV1...
  26. ncbi Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)
    Goryu Fukuma
    Department of Pediatrics, Fukuoka University, Japan
    Epilepsia 45:140-8. 2004
    Severe myoclonic epilepsy in infancy (SMEI) is a distinct epilepsy syndrome...
  27. pmc Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy
    Thomas H Rhodes
    Division of Genetic Medicine, Department of Medicine, Vanderbilt University, Nashville, TN 37232, USA
    Proc Natl Acad Sci U S A 101:11147-52. 2004
    Mutations in SCN1A, the gene encoding the brain voltage-gated sodium channel alpha(1) subunit (Na(V)1...
  28. ncbi Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity
    K Kanai
    Department of Neuropsychiatry, Hirosaki University School of Medicine, 5 Zaifu cho, Hirosaki, Aomori 036 8562, Japan
    Neurology 63:329-34. 2004
    Many missense mutations in the voltage-gated sodium channel subunit gene SCN1A were identified in patients with generalized epilepsy with febrile seizures plus (GEFS+) and severe myoclonic epilepsy of infancy (SMEI), although GEFS+ is ..
  29. ncbi SCN1A mutations and epilepsy
    John C Mulley
    Department of Genetic Medicine, Women s and Children s Hospital, North Adelaide, South Australia, Australia
    Hum Mutat 25:535-42. 2005
    b>SCN1A is part of the SCN1A-SCN2A-SCN3A gene cluster on chromosome 2q24 that encodes for alpha pore forming subunits of sodium channels. The 26 exons of SCN1A are spread over 100 kb of genomic DNA...
  30. ncbi Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine
    Martin Dichgans
    Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians Universitat, 81377 Munchen, Germany
    Lancet 366:371-7. 2005
    ..So far, mutations in two genes regulating ion translocation-CACNA1A and ATP1A2-have been identified in pedigrees with this disease...
  31. pmc Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures
    Thomas H Rhodes
    Division of Genetic Medicine, Department of Medicine, 529 Light Hall, Vanderbilt University, 2215 Garland Avenue, Nashville, TN 37232 0275, USA
    J Physiol 569:433-45. 2005
    Mutations in SCN1A, the gene encoding the brain voltage-gated sodium channel alpha(1) subunit (Na(V)1...
  32. ncbi Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy
    Elena Gennaro
    Laboratory of Muscle Pathology and Neurogenetics, Unit of Muscular and Neurodegenerative Disease, Istituto G Gaslini, University of Genova, Italy
    Biochem Biophys Res Commun 341:489-93. 2006
    ..epileptic syndrome with onset in the first year of life and is commonly caused by de novo mutations in the SCN1A gene, encoding the alpha1-subunit of the neuronal voltage-gated sodium channel...
  33. ncbi Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy
    Christel Depienne
    INSERM U679 formerly U289, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Hum Mutat 27:389. 2006
    De novo mutations in the SCN1A gene, encoding the alpha1-subunit of the neuronal voltage-gated sodium channel Nav1.1, are the most frequent genetic cause of Severe Myoclonic Epilepsy of Infancy known so far...
  34. ncbi A common polymorphism in the SCN1A gene associates with phenytoin serum levels at maintenance dose
    Sarah K Tate
    Department of Biology, University College London, London, UK
    Pharmacogenet Genomics 16:721-6. 2006
    ..A common functional polymorphism in the SCN1A gene (one of the genes encoding the drug target) has been previously associated with maximum dose of phenytoin ..
  35. ncbi Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations
    Maria Margherita Mancardi
    Laboratory of Neurogenetics, Unit of Muscular and Neurodegenerative Disease, Institute G Gaslini, Genova, Italy
    Epilepsia 47:1629-35. 2006
    ..We explored the genetic background of SMEI patients carrying SCN1A mutations to further shed light on the genetics of this disorder.
  36. ncbi Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy
    Iori Ohmori
    Division of Genetic Medicine, Department of Medicine, Vanderbilt University, Nashville, Tennessee 37232 0275, USA
    Epilepsia 47:1636-42. 2006
    Mutations in SCN1A, encoding the human Na(V)1.1 neuronal voltage-gated sodium channel, cause the syndrome of severe myoclonic epilepsy of infancy (SMEI)...
  37. pmc Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A
    Erin L Heinzen
    Institute for Genome Sciences and Policy, Center for Population Genomics and Pharmacogenetics, Duke University, Durham, NC 27710, USA
    Am J Hum Genet 80:876-83. 2007
    An intronic polymorphism in the SCN1A gene, which encodes a neuronal sodium-channel alpha subunit, has been previously associated with the dosing of two commonly used antiepileptic drugs that elicit their pharmacologic action primarily ..
  38. ncbi Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation
    Hitoshi Osaka
    Division of Neurology, Kanagawa Children s Medical Center, Yokohama 232 8555, Japan
    Epilepsy Res 75:46-51. 2007
    We investigated the roles of mutations in voltage-gated sodium channel alpha 1 subunit gene (SCN1A) in epilepsies and psychiatric disorders...
  39. ncbi Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation
    Ikuo Ogiwara
    Laboratory for Neurogenetics, RIKEN Brain Science Institute, Wako, Saitama 351 0198, Japan
    J Neurosci 27:5903-14. 2007
    Loss-of-function mutations in human SCN1A gene encoding Nav1.1 are associated with a severe epileptic disorder known as severe myoclonic epilepsy in infancy...
  40. pmc Characterization of 5' untranslated regions of the voltage-gated sodium channels SCN1A, SCN2A, and SCN3A and identification of cis-conserved noncoding sequences
    Melinda S Martin
    Department of Human Genetics, Emory University, Atlanta, GA 30322, USA
    Genomics 90:225-35. 2007
    The human voltage-gated sodium channel gene cluster on chromosome 2q24 contains three paralogs, SCN1A, SCN2A, and SCN3A, which are expressed in the central nervous system...
  41. ncbi Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant
    Raffaella Rusconi
    Department of Neurophysiopathology, Besta Neurological Institute, 20133 Milan, Italy
    J Neurosci 27:11037-46. 2007
    ..We studied Na(v)1.1 (SCN1A) Na+ channel alpha subunit M1841T mutation, identified in a family characterized by a particularly large ..
  42. ncbi A screening test for the prediction of Dravet syndrome before one year of age
    Junri Hattori
    Department of Child Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan
    Epilepsia 49:626-33. 2008
    Our aim was to develop a screening test to predict Dravet syndrome before the first birthday based on the clinical characteristics of infants and the SCN1A mutation analysis.
  43. doi Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy
    Ji Wen Wang
    Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan
    Epilepsia 49:1528-34. 2008
    Genetic abnormalities of the gene encoding alpha1 subunit of the sodium channel (SCN1A), which can be detected by direct sequencing, are present in more than 60% of patients with severe myoclonic epilepsy in infancy (SMEI) or its ..
  44. pmc Association between SCN1A polymorphism and carbamazepine-resistant epilepsy
    Tomohide Abe
    Division of Pharmacology and Therapeutics, Graduate School of Medical and Pharmaceutical Science, Kumamoto University, Kumamoto, Japan
    Br J Clin Pharmacol 66:304-7. 2008
    To establish whether the SCN1A IVS5-91 G > A polymorphism of the SCN1A gene, which encodes the neuronal sodium channel alpha subunit, affects responsiveness to the antiepileptic drugs (AEDS) carbamazepine and/or phenytoin.
  45. doi Do SCN1A mutations protect from hippocampal sclerosis?
    Stéphane Auvin
    Epilepsia 49:1107-8. 2008
  46. doi A functional polymorphism in the SCN1A gene is not associated with carbamazepine dosages in Austrian patients with epilepsy
    Fritz Zimprich
    Epilepsia 49:1108-9. 2008
  47. doi Identification of the promoter region and the 5'-untranslated exons of the human voltage-gated sodium channel Nav1.1 gene (SCN1A) and enhancement of gene expression by the 5'-untranslated exons
    Yue Sheng Long
    Institute of Neuroscience and the Second Affiliated Hospital, Guangzhou Medical College, Guangdong, China
    J Neurosci Res 86:3375-81. 2008
    ..In the present study, we identified the transcription start site and three 5'-untranslated exons of SCN1A by using 5'-full RACE. The 2...
  48. doi Multidrug resistance in epilepsy and polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, and SCN3A: correlation among phenotype, genotype, and mRNA expression
    Patrick Kwan
    Division of Neurology, Department of Medicine and Therapeutics, Chinese University of Hong Kong, Hong Kong, China
    Pharmacogenet Genomics 18:989-98. 2008
    ..We investigated the association of AED responsiveness with genetic polymorphisms and correlated any association with mRNA expression of the neuronal sodium channels...
  49. pmc Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females
    Christel Depienne
    Département de génétique et cytogénétique, AP HP, Fédération de Génétique, Hopital de la Salpetriere, Paris, France
    PLoS Genet 5:e1000381. 2009
    Dravet syndrome (DS) is a genetically determined epileptic encephalopathy mainly caused by de novo mutations in the SCN1A gene...
  50. doi A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures
    K Schlachter
    Department of Pediatrics, LKH Bregenz, Austria
    Neurology 72:974-8. 2009
    ..whether the risk of febrile seizures is influenced by a common functional polymorphism in the sodium channel gene SCN1A. This single nucleotide polymorphism (IVS5N+5 G>A, rs3812718) was shown to modify the proportion of two ..
  51. doi A rescuable folding defective Nav1.1 (SCN1A) sodium channel mutant causes GEFS+: common mechanism in Nav1.1 related epilepsies?
    Raffaella Rusconi
    Department of Neurophysiopathology, C Besta Neurological Institute, 20133 Milano, Italy
    Hum Mutat 30:E747-60. 2009
    ..1 (SCN1A) is the most frequent target...
  52. doi Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy
    Elisabeth Siti Herini
    Department of Genetic Epidemiology, Kobe University Graduate School of Medicine, Kobe, Japan
    Pediatr Int 52:234-9. 2010
    Severe myoclonic epilepsy in infancy (SMEI) and borderline SMEI (SMEB) are caused by a mutation in SCN1A, which encodes a voltage-gated sodium channel alpha1-subunit protein...
  53. doi The SCN1A variant database: a novel research and diagnostic tool
    Lieve R F Claes
    Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium
    Hum Mutat 30:E904-20. 2009
    The neuronal voltage-gated sodium channel Na(v)1.1 encoded by the SCN1A gene plays an important role in the generation and propagation of action potentials in the central nervous system...
  54. pmc Differential role of sodium channels SCN1A and SCN2A gene polymorphisms with epilepsy and multiple drug resistance in the north Indian population
    Ram Lakhan
    Departments of Genetics and Neurology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226014, India
    Br J Clin Pharmacol 68:214-20. 2009
    ..susceptibility and their role in therapeutic efficacy, we screened coding single-nucleotide polymorphism of SCN1A p. Thr 1067 Ala or c.3184 A-->G (rs2298771) and SCN2A p.Arg19Lys or c...
  55. doi A missense mutation of the gene encoding voltage-dependent sodium channel (Nav1.1) confers susceptibility to febrile seizures in rats
    Tomoji Mashimo
    Institute of Laboratory Animals, Graduate School of Medicine, Kyoto University, Kyoto 606 8501, Japan
    J Neurosci 30:5744-53. 2010
    ..Several missense mutations of the Na(v)1.1 channel (SCN1A), which alter channel properties, have been reported in a familial syndrome of GEFS+ (generalized epilepsy with ..
  56. doi Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study
    Anne M McIntosh
    Epilepsy Research Centre and Department of Medicine Neurology, University of Melbourne, Victoria, Australia
    Lancet Neurol 9:592-8. 2010
    ..vaccine encephalopathy had Dravet syndrome that was associated with de-novo mutations of the sodium channel gene SCN1A. In this study, we aimed to establish whether the apparent association of Dravet syndrome with vaccination was ..
  57. doi Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome
    Christel Depienne
    INSERM U975 CRicm, Bâtiment Pharmacie 4 étage, Groupe Hospitalier Pitie Salpetriere, 47 Boulevard de l Hopital, 75013 Paris, France
    J Med Genet 47:404-10. 2010
    BACKGROUND Mutations in SCN1A can cause genetic epilepsy with febrile seizures plus (GEFS+, inherited missense mutations) or Dravet syndrome (DS, de novo mutations of all types)...
  58. doi Milder phenotype with SCN1A truncation mutation other than SMEI
    Mei juan Yu
    Institute of Neuroscience and the Second Affiliated Hospital of Guangzhou Medical College and Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Guangzhou, China
    Seizure 19:443-5. 2010
    Till now truncation mutations of voltage-gated sodium channel alpha subunit type I (SCN1A) gene were mostly found in severe myoclonic epilepsy of infancy (SMEI) patients...
  59. doi Genotype-phenotype associations in SCN1A-related epilepsies
    S M Zuberi
    Royal Hospital for Sick Children, Yorkhill, Glasgow G3 8SJ, UK
    Neurology 76:594-600. 2011
    Most mutations in SCN1A-related epilepsies are novel and when an infant presents with febrile seizures (FS) it is uncertain if they will have simple FS, FS+, or develop a severe epilepsy such as Dravet syndrome...
  60. doi Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene
    Nienke E Verbeek
    DBG Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands
    Epilepsia 52:e23-5. 2011
    Most patients with Dravet syndrome have de novo mutations in the neuronal voltage-gated sodium channel type 1 (SCN1A) gene...
  61. doi Dravet syndrome and SCN1A gene mutation related-epilepsies: cognitive impairment and its determinants
    Renzo Guerrini
    Paediatric Neurology Unit and Laboratories, Children s Hospital A Meyer University of Florence, Viale Pieraccini, Firenze, Italy
    Dev Med Child Neurol 53:11-5. 2011
    ....
  62. pmc When should clinicians order genetic testing for Dravet syndrome?
    Jamie K Fountain-Capal
    Division of Pediatric Neurology, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229 3039, USA
    Pediatr Neurol 45:319-23. 2011
    The role of neuronal voltage-gated sodium channel, α-1 subunit (SCN1A) gene mutations in Dravet syndrome is well-established...
  63. doi Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome
    A Brunklaus
    The Paediatric Neurosciences Research Group, Royal Hospital for Sick Children, Yorkhill, Dalnair Street, Glasgow G3 8SJ, UK
    Brain 135:2329-36. 2012
    ..infantile onset epileptic encephalopathy associated with mutations in the sodium channel alpha 1 subunit gene SCN1A. To date no large studies have systematically examined the prognostic, clinical and demographic features of the ..
  64. 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
    ..A second locus on chromosome 2q, GEFS2, was recently identified as the sodium-channel alpha1-subunit, SCN1A. Single-stranded conformation analysis (SSCA) of SCN1A was performed in 53 unrelated index cases to estimate the ..
  65. ncbi Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy
    T Sugawara
    Laboratory for Neurogenetics, RIKEN, Brain Science Institute, Saitama, Japan
    Neurology 58:1122-4. 2002
    Mutations in the neuronal voltage-gated sodium channel alpha-subunit type I gene (SCN1A) were found responsible for severe myoclonic epilepsy in infancy (SMEI). The authors describe novel mutations of SCN1A in Japanese patients with SMEI...
  66. ncbi Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy
    F Madia
    Muscle and Neurodegenerative Disease Unit, Institute G Gaslini, University of Genova, Genova, Italy
    Neurology 67:1230-5. 2006
    To identify cryptic chromosomal deletions involving SCN1A in patients with severe myoclonic epilepsy of infancy (SMEI).
  67. pmc NaV1.1 channels and epilepsy
    William A Catterall
    University of Washington, Department of Pharmacology, SJ 30, Seattle, WA 98195 7280, USA
    J Physiol 588:1849-59. 2010
    ..1 channel encoded by the SCN1A gene is the most frequent target of mutations. Complete loss-of-function mutations in NaV1...
  68. doi Molecular genetics of Dravet syndrome
    Peter De Jonghe
    Neurogenetic Group, VIB Department of Molecular Genetics, University of Antwerp, Belgium
    Dev Med Child Neurol 53:7-10. 2011
    ..we demonstrated that the majority of Dravet patients have a genetic cause due to loss-of-function mutations in the SCN1A gene...
  69. pmc Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome
    Linda Volkers
    Division of Biomedical Genetics, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Eur J Neurosci 34:1268-75. 2011
    Relatively few SCN1A mutations associated with genetic epilepsy with febrile seizures-plus (GEFS+) and Dravet syndrome (DS) have been functionally characterized...
  70. ncbi Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A
    M Ito
    Department of Pediatrics, Shiga Medical Center for Children, 5 7 30 Moriyama, Moriyama 524 0022, Japan
    Epilepsy Res 48:15-23. 2002
    ..Several missense mutations of the (Na(+))-channel alpha 1 subunit (Nav1.1) gene, SCN1A were also identified in GEFS+2 families at chromosome 2q23-q24.3...
  71. ncbi De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study
    Samuel F Berkovic
    Epilepsy Research Centre and Department of Medicine, University of Melbourne, Austin Health, Heidelberg West, Victoria, Australia
    Lancet Neurol 5:488-92. 2006
    ..cases of so-called vaccine encephalopathy could have mutations in the neuronal sodium channel alpha1 subunit gene (SCN1A) because of a clinical resemblance to severe myoclonic epilepsy of infancy (SMEI) for which such mutations have ..
  72. doi First mutation in the voltage-gated Nav1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy
    M J Castro
    Instituto de Ciencias Biomedicas Abel Salazar, Universidade do Porto, Porto, Portugal
    Cephalalgia 29:308-13. 2009
    Almost all mutations in the SCN1A gene, encoding the alpha(1) subunit of neuronal voltage-gated Na(V)1.1 sodium channels, are associated with severe childhood epilepsy...
  73. pmc Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures
    Massimo Mantegazza
    Department of Neurophysiopathogy, Istituto Neurologico C Besta, Milan, Italy
    Proc Natl Acad Sci U S A 102:18177-82. 2005
    ..for familial FS, and the FEB3 autosomal-dominant locus has been identified on chromosome 2q23-24, where the SCN1A gene is mapped. However, gene mutations causing simple FS have not been found yet...
  74. doi Debate: Does genetic information in humans help us treat patients? PRO--genetic information in humans helps us treat patients. CON--genetic information does not help at all
    Antonio V Delgado-Escueta
    Epilepsy Genetics Genomics Laboratories, VA Greater Los Angeles Healthcare System, David Geffen School of Medicine at UCLA, West Los Angeles, California 90073, USA
    Epilepsia 49:13-24. 2008
    ..to help the neurologic practitioner treat patients with three types of epilepsy causing mutations, namely (1) SCN1A, a sodium channel gene mutated in Dravet's sporadic severe myoclonic epilepsy of infancy (SMEI and SMEB); (2) ..
  75. doi Generalized epilepsy with febrile seizures plus: novel SCN1A mutation
    Petia S Dimova
    Clinic of Child Neurology, St Naum University Hospital of Neurology and Psychiatry, Sofia, Bulgaria
    Pediatr Neurol 42:137-40. 2010
    ..3925 C>T) in exon 20 of the SCN1A gene...
  76. ncbi Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family
    H Lerche
    Department of Neurology, University of Ulm, Germany
    Neurology 57:1191-8. 2001
    ..So far, three mutations within genes encoding subunits of neuronal voltage-gated Na(+) channels have been found in GEFS(+) families, one in SCN1B (beta(1)-subunit) and two in SCN1A (alpha-subunit).
  77. doi Involvement of voltage-gated sodium channels blockade in the analgesic effects of orphenadrine
    Jean Francois Desaphy
    Sezione di Farmacologia, Dipartimento Farmacobiologico, Facolta di Farmacia, Universita di Bari, Bari, Italy
    Pain 142:225-35. 2009
    ..On the other hand, block of Nav1.1 and Nav1.5 may contribute to the proconvulsive and proarrhythmic adverse reactions, especially observed during overdose...
  78. doi Astrocytes within multiple sclerosis lesions upregulate sodium channel Nav1.5
    Joel A Black
    Neuroscience Research Centre Bldg 34, VA Connecticut Healthcare System 127A, 950 Campbell Avenue, West Haven, CT 06516, USA
    Brain 133:835-46. 2010
    ..Our observations suggest that the upregulated expression of Nav1.5 in astrocytes may provide a compensatory mechanism, which supports sodium/potassium pump-dependent ionic homoeostasis in areas of central nervous system injury...
  79. ncbi Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities
    Carla Marini
    Epilepsy, Neurophysiology and Neurogenetic Unit, Institute of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy
    Epilepsia 48:1678-85. 2007
    b>SCN1A is the most clinically relevant epilepsy gene, most mutations lead to severe myoclonic epilepsy of infancy (SMEI) and generalized epilepsy with febrile seizures plus (GEFS+)...
  80. doi Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: clinical manifestations and SCN1A mutations in Indonesian patients
    Elisabeth Siti Herini
    Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe 650 0017, Japan
    Epilepsy Res 90:132-9. 2010
    ..GEFS+ includes a wide spectrum of clinical manifestations, and SCN1A mutations have frequently been reported among the GEFS+-related gene abnormalities...
  81. doi 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
    ..Mutations in 3 genes--the sodium channel alpha1 subunit gene (SCN1A), the sodium channel beta1 subunit gene (SCN1B), and the gamma2 GABA receptor subunit gene (GABRG2)--and linkage ..
  82. ncbi [Linkage location and mutation analysis of generalized epilepsy with febrile seizures plus]
    Hua Lin
    Department of Neurology, Xuanwu Hospital of Capital Medical University, Beijing 100053, China
    Zhonghua Yi Xue Za Zhi 88:3177-81. 2008
    ..To study the etiologic genes of generalized epilepsy with febrile seizure plus (GEFS+)...
  83. doi Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
    Ingrid E Scheffer
    Department of Medicine, The University of Melbourne, Austin Health, Victoria, Australia
    Brain Dev 31:394-400. 2009
    Dravet syndrome and genetic epilepsy with febrile seizures plus (GEFS+) can both arise due to mutations of SCN1A, the gene encoding the alpha 1 pore-forming subunit of the sodium channel...
  84. ncbi Generalized epilepsy with febrile seizures plus and severe myoclonic epilepsy in infancy: a case report of two Italian families
    P Veggiotti
    Child Neuropsychiatry Division, Neurological Institute Casimiro Mondino Foundation IRCCS, V Palestro 3, 27100 Pavia Italy
    Epileptic Disord 3:29-32. 2001
    ..in which the fathers showed febrile seizure plus (FS+), and two sons had severe myoclonic epilepsy of infancy (SMEI)...
  85. ncbi [Severe myoclonic epilepsy in infancy (Dravet's syndrome). Some genetic aspects]
    J L Herranz
    Servicio de Neuropediatria, Hospital Universitario Marqués de Valdecilla Universidad de Cantabria, Santander, Espana
    Rev Neurol 37:60-3. 2003
    The purpose of this study is to survey the data from the literature on the subject of the possible genetic origin of severe myoclonic epilepsy in infancy (SMEI).
  86. ncbi [Progress in molecular genetics of generalized epilepsy with febrile seizures plus]
    Hui Hui Sun
    Department of Pediatrics, Peking University First Hospital, Beijing 100034, China
    Beijing Da Xue Xue Bao 40:229-33. 2008
    ..These include mutations in genes encoding subunits of neuronal voltage-gated sodium channels (SCN1A, SCN1B, SCN2A) and gamma(2) subunit of the gamma amino-butyric acid (GABA)(A) receptor (GABRG2)...
  87. doi Sodium channel activity modulates multiple functions in microglia
    Joel A Black
    Department of Neurology and Center for Neuroscience and Regeneration Research, Yale School of Medicine, New Haven, Connecticut 06518, USA
    Glia 57:1072-81. 2009
    ..6) indicate that Nav1.6 plays a role in microglial migration. The results demonstrate that the activity of sodium channels contributes to effector roles of activated microglia...
  88. ncbi Downregulation of neuronal sodium channel subunits Nav1.1 and Nav1.6 in the sinoatrial node from volume-overloaded heart failure rat
    Yuan Du
    Department of Cardiovascular Medicine, First Hospital of Xi an Jiaotong University, No 277 West Yanta Road, Xi an, Shaanxi, 710061, China
    Pflugers Arch 454:451-9. 2007
    ..1 and Nav1.6 expression contributes to HF-induced SAN dysfunction. These findings provide additional information about molecular basis of disease-related impairment of SAN function...
  89. doi Differential evolution of voltage-gated sodium channels in tetrapods and teleost fishes
    Jenny Widmark
    Department of Neuroscience, Uppsala University, Uppsala, Sweden
    Mol Biol Evol 28:859-71. 2011
    ..with HOX in the two rounds of basal vertebrate tetraploidizations to generate the ancestors of the four channels SCN1A, SCN4A, SCN5A, and SCN8A...
  90. ncbi A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures
    Kazue Kimura
    Segawa Neurological Clinic for Children, 2 8 Surugadai Kanda, Chiyoda ku, Tokyo 101 0062, Japan
    Brain Dev 27:424-30. 2005
    ..Heterozygous mutations in the voltage-gated sodium channel alpha subunit type1 gene (SCN1A) are frequently identified in patients with SMEI; two-thirds of these mutations are truncation mutations (non-..
  91. doi Scn1a missense mutation impairs GABAA receptor-mediated synaptic transmission in the rat hippocampus
    Yukihiro Ohno
    Laboratory of Pharmacology, Osaka University of Pharmaceutical Sciences, Takatsuki, Osaka 569 1094, Japan
    Biochem Biophys Res Commun 400:117-22. 2010
    Mutations of the Na(v)1.1 channel subunit SCN1A have been implicated in the pathogenesis of human febrile seizures (FS)...
  92. pmc Human and rat Nav1.3 voltage-gated sodium channels differ in inactivation properties and sensitivity to the pyrethroid insecticide tefluthrin
    Jianguo Tan
    Insecticide Toxicology Laboratory, Department of Entomology, New York State Agricultural Experiment Station, 630 W North St, Cornell University, Geneva, NY 14456, USA
    Neurotoxicology 30:81-9. 2009
    ....
  93. pmc Loss-of-function mutation of the SCN3B-encoded sodium channel {beta}3 subunit associated with a case of idiopathic ventricular fibrillation
    Carmen R Valdivia
    Department of Medicine, Cardiovascular Section, and the Cardiac Molecular Arrhythmias Research Program, University of Wisconsin Madison, 600 Highland Avenue H6 349, Madison, WI 53792, USA
    Cardiovasc Res 86:392-400. 2010
    ..5 is regulated by four sodium channel auxiliary beta subunits. Here, we report a case with IVF and a novel mutation in the SCN3B-encoded sodium channel beta subunit Navbeta3 that causes a loss of function of Nav1.5 channels in vitro...
  94. doi Multiple sodium channel isoforms and mitogen-activated protein kinases are present in painful human neuromas
    Joel A Black
    Department of Neurology and Center for Neuroscience and Regeneration Research, Yale School of Medicine, New Haven, USA
    Ann Neurol 64:644-53. 2008
    ..We also examined the expression of two mitogen-activated protein (MAP) kinases, activated p38 and extracellular signal-regulated kinases 1 and 2 (ERK1/2), which are known to contribute to chronic pain, within these human neuromas...
  95. ncbi [Diagnosis in severe myoclonic epilepsy in childhood: study of 13 cases]
    A Fernandez-Jaen
    Servicio de Neurología Pediátrica, Hospital Universitario La Paz, Madrid, Espana
    Rev Neurol 26:759-62. 1998
    The purpose of this report is to describe clinical pattern, EEG, outcome and differential diagnosis in severe myoclonic epilepsy in infancy (SMEI).
  96. doi Novel de novo splice-site mutation of SCN1A in a patient with partial epilepsy with febrile seizures plus
    Akira Kumakura
    Department of Pediatrics, Kitano Hospital, The Tazuke Kofukai Medical Institute, Ohgimachi, Kita ku, Osaka 530 8480, Japan
    Brain Dev 31:179-82. 2009
    ..The gene encoding voltage-gated sodium channel alpha1-subunit: SCN1A analysis revealed a heterozygous de novo one-point mutation (IVS16+2 T>C) at a splice-acceptor site...
  97. ncbi [A case of intractable epilepsy with pachygyria: the effect of TRH-T treatment]
    H Takahashi
    Department of Pediatrics, Juntendo University School of Medicine, Chiba
    No To Hattatsu 25:465-70. 1993
    ..in the left cerebral hemisphere who showed intractable seizures mimicking severe myoclonic epilepsy in infancy (SMEI) treated with TRH-T...
  98. ncbi Phenotypes and genotypes in epilepsy with febrile seizures plus
    M Ito
    Department of Pediatrics, Shiga Medical Center for Children, 5 7 30 Moriyama, Moriyama 524 0022, Japan
    Epilepsy Res 70:S199-205. 2006
    In the last several years, mutations of sodium channel genes, SCN1A, SCN2A, and SCN1B, and GABA(A) receptor gene, GABRG2 were identified as causes of some febrile seizures related epilepsies...
  99. doi Failure to detect association between polymorphisms of the sodium channel gene SCN1A and febrile seizures in Chinese patients with epilepsy
    Chunbo Zhang
    School of Pharmacy, The Chinese University of Hong Kong, Hong Kong, China
    Epilepsia 51:1878-81. 2010
    Arecent study in Caucasians found an association between the single nucleotide polymorphism (SNP) of SCN1A, IVS5N +5 G>A (rs3812718), and febrile seizures (FS)...

Research Grants62

  1. The Role of Stress in a Genetically Predisposed Epilepsy Model
    NIKKI TAMARA SAWYER; Fiscal Year: 2013
    ..Our lab has developed a mouse model of GEFS+ created by knocking in a human SCN1A- GEFS+ mutation (R1648H) into the orthologous mouse gene (Scn1a)...
  2. Evaluation of Scn8a as a target for the treatment of refractory epilepsy
    CHRISTOPHER DONALD MAKINSON; Fiscal Year: 2013
    ..Mutations in the voltage gated sodium channels (VGSCs) SCN1A, SCN2A, and SCN3A are associated with several epilepsy subtypes, including genetic (generalized) epilepsy with ..
  3. Scn8a and Seizure Resistance
    Alan L Goldin; Fiscal Year: 2012
    ..Mutations in the sodium channel SCN1A are a major cause of GEFS+ and SMEI, even though three other sodium channels (SCN2A, SCN3A, and SCN8A) are ..
  4. Towards the development of a novel treatment for epilepsy
    ANDREW P ESCAYG; Fiscal Year: 2010
    The voltage-gated sodium channels SCN1A, SCN2A, SCN3A, and SCN8A are key regulators of neuronal excitability in the central nervous system (CNS)...
  5. Identification of Epilepsy Modifier Genes in a Mouse Model
    Nicole A Hawkins; Fiscal Year: 2013
    ..Over 700 mutations have been identified in the voltage-gated sodium channel genes SCN1A and SCN2A in human epilepsies, including Genetic Epilepsy with Febrile Seizures Plus (GEFS+) and Dravet Syndrome...
  6. The Effect of Cell Spectic Deletion of Na 1.1 on Seizure Gereration
    STACEY BEANNA BERNICE DUTTON; Fiscal Year: 2012
    ..g. the brain, muscle, and the heart). Mutations in the VGSC SCN1A (protein name Nav1...
  7. ANDREW P ESCAYG; Fiscal Year: 2014
    DESCRIPTION (provided by applicant): PROJECT SUMMARY Mutations in the SCN1A voltage-gated sodium channel (VGSC) are responsible for a growing number of disorders, including genetic epilepsy with febrile seizures plus (GEFS+), Dravet ..
  8. Jennifer A Kearney; Fiscal Year: 2016
    ..Heterozygous Scn1a+/- null mice are a model of Dravet Syndrome, a severe, infant-onset epilepsy with progressive worsening ..
  9. Therapeutic effects of ketogenic diet in a mouse model of severe myoclinic epilep
    Franck K Kalume; Fiscal Year: 2013
    ..to intensively investigate the therapeutic properties of ketogenic diet in severe myoclonic epilepsy in infancy (SMEI, as known as Dravet syndrome) using a mouse model of the disorder at the University of Washington, one of the ..
  10. Alfred L George; Fiscal Year: 2015
    ..In Specific Aim 1, we will elucidate the functional consequences of novel epilepsy-associated SCN1A (encoding NaV1.1) mutations with a focus on two unstudied mechanistic aspects of mutant channel dysfunction...
  11. William A Catterall; Fiscal Year: 2016
    ..We will examine new-generation, subtype-selective GABA-A receptor activators and test effectiveness of these therapies approaches to control seizures and co-morbidities in DS mice. ..
  12. Pierre Pascal Lenck-Santini; Fiscal Year: 2016
    ..Mutations of the SCN1A gene, which codes for Nav type 1...
  13. John C Oakley; Fiscal Year: 2015
    ..It is associated with loss-of-function mutations in SCN1A which codes for a voltage-gated sodium channel Nav1...
  14. Neurophysiological mechanisms of cognitive impairment in Severe Myoclonic Epileps
    ALEX COLBATH BENDER; Fiscal Year: 2013
    ..SMEI), also referred to as Dravet syndrome, is a childhood disorder associated with loss-of-function mutations in Scn1a that is characterized by frequent seizures and severe cognitive impairment...
  15. Scott C Baraban; Fiscal Year: 2015
    ..Zebrafish mutants featuring a loss-of-function sodium channel (Nav1.1/SCN1A) mutation (e.g...
  16. Stem cell derived neurons and inherited epilepsy
    Miriam H Meisler; Fiscal Year: 2010
    ..a severe form of childhood epilepsy, SMEI, which is caused by mutations in a neuron-specific sodium channel gene, SCN1A. SMEI is an intractable disorder with onset between 6 months and 2 years of age...
  17. Doo Yeon Kim; Fiscal Year: 2016
    ..Moreover, our preliminary data suggest that BACE1 and/or y-secretase inhibitors could affect VGSC function, and be beneficial in normalizing membrane excitability in AD patients with elevated BACE1 activity. ..
  18. Extended NeuroAmides: Novel Antiepileptic Drug Candidates
    Harold Kohn; Fiscal Year: 2012
    ..The proposed investigation provides a critical path for ENA development and selection allowing for IND- enabling studies in the STTR phase II study. ..
  19. HEREDITARY DEFECTS IN HUMAN SODIUM CHANNELS
    ALFRED GEORGE; Fiscal Year: 2009
    ..Our laboratory is uniquely qualified to elucidate the molecular mechanism of SCN1A-associated epilepsy using recombinant human SCN1A, a reagent that we have recently developed...
  20. Design, Synthesis and Evaluation of Novel Isoform-Selective Sodium Channel Inhibi
    JOHN VINCENT MULCAHY; Fiscal Year: 2013
    ..7 as a target for pain treatment, and 3) a high-affinity, isoform-selective sodium channel antagonist as a lead compound for optimization toward a next-generation pain therapeutic. ..
  21. Mark A Tanouye; Fiscal Year: 2014
    ..epilepsy with febrile seizures plus), characterized by febrile seizures that persist beyond the age of 6y;SMEI (severe myoclonic epilepsy in infancy), an intractable epilepsy frequently resulting in convulsive status ..
  22. Trigeminal Neuropathic Pain Mechanisms
    Michael Henry; Fiscal Year: 2006
    ..Identification of specific sodium channel alterations after injury may help develop more selective treatments for neuropathic pain. ..
  23. 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 ..
  24. Altered sodium channel metabolism in Alzheimer's disease
    Doo Yeon Kim; Fiscal Year: 2009
    ..22 is essential for maintaining expression, trafficking, and cell surface localization of the Nav1 1-subunits, the major channel-forming subunits regulating membrane excitability in neuronal cells...
  25. Mechanisms of Sodium Channel Dysfunction in Epilepsy
    KRIS KAHLIG; Fiscal Year: 2007
    ..This research proposal examines epilepsy-associated mutations in the human voltage-gated sodium channel gene SCN1A with the goal of elucidating novel mechanisms of abnormal neuronal excitability...
  26. Jing Qiong Kang; Fiscal Year: 2016
    ..To date, most DS patients are associated with SCN1A loss of function mutations that result in impaired GABAergic interneuron activity and action potential firing...
  27. Geoffrey S Pitt; Fiscal Year: 2016
    ..Mutations in SCN1A and SCN2A, which encode the neuronal channels NaV1.1 and NaV1.2, respectively, cause inherited epilepsy syndromes...
  28. PHYSIOLOGY OF MUCUS-SECRETING SALIVARY GLANDS
    CATHERINE OVITT; Fiscal Year: 2013
    ..initially secrete an isotonic, plasma-like fluid;duct cells subsequently modify this primary secretion to conserve NaC1. Both the fluid secretion and NaC1 reabsorption processes are dependent upon the coordinated action of multiple Na+ ..
  29. Trigeminal Mechanisms of Oral Irritation
    Earl Carstens; Fiscal Year: 2009
    ..Repetitive or continual intraoral application of certain irritants (capsaicin, concentrated NaC1) elicits irritation that progressively increases in intensity (sensitization), while irritation elicited by other ..
  30. NAC1, A cocaine regulated mRNA in the rat brain
    Scott A Mackler; Fiscal Year: 2011
    ..During the previous tenure of this application NAC1 was characterized as a member of the POZ/BTB family of transcription factors that demonstrates increases in gene ..
  31. Stephen C Cannon; Fiscal Year: 2016
    ....
  32. ROLE OF CHLORIDE IN SODIUM-DEPENDENT HYPERTENSION
    Theodore Kurtz; Fiscal Year: 1990
    ..entirely on studies in which the dietary intake of sodium (Na+) has been varied by varying the dietary intake of NaC1. The hypertensionogenic effect of dietary Na+ might depend on provision of both Na+ and C1-, not just Na+...
  33. Genetic basis of gonadal steroid-independent male social behavior
    Jin Ho Park; Fiscal Year: 2012
    ..Our analysis has linked six novel candidate genes to complex social behaviors: S0D1, PTEN, SCN1A, IMPA1, APP, MART...
  34. CARDIAC MUSCLE CELL DEVELOPMENT AND NUCLEAR PROTEINS
    JASWANT BHORJEE; Fiscal Year: 1990
    ..35 M NaC1 extracts with and without the phosphorylated HMG 14, where the HMG 14 phosphopeptides will be removed by ..
  35. CLINICAL PHARMACOLOGY CENTER
    Michael Murphy; Fiscal Year: 1991
    ..The goals of Project II "Role of Endogenous DA in Renal Function" are 1) to determine the effects of NaC1 loading on renal blood flow, glomerular filtration rate, and electrolyte and DA excretion in dogs before and after ..
  36. ION CHANNEL REGULATION IN CYSTIC FIBROSIS
    JEFFREY WINE; Fiscal Year: 1990
    ..techniques; and to determine: (2) if the CF gene is expressed by heterozygotes; (3) if the reabsorption of NaC1 by sweat ducts is regulated by a cAMP-dependent increase in chloride conductance; and (4) if beta-adrenergically ..
  37. ION TRANSPORT IN SMALL INTESTINE
    William Armstrong; Fiscal Year: 1991
    ..the specific mechanisms (Na/Cl symport; parallel Na/H, C1/HCO3 antiport; K-dependent symport) involved in apical NaC1 entry and the factors that regulate them, (ii) to define the regulatory roles of intracellular Ca and cAMP in ..
  38. DIET SALT, CALCIUM KIDNEY STONES, BONE IN STONE FORMERS
    Linda Massey; Fiscal Year: 2001
    ..increased urinary calcium losses are approximately 1 mmol (40 mg) for each 100 mmol (2300 mg) increase in dietary NaC1. Individuals with hypercalciuria and/or a history of calcium kidney stones appear to have 2 times greater ..
  39. MECHANISMS OF PRESSURE NATRIURESIS IN PROXIMAL TUBULES
    Kay Pong Yip; Fiscal Year: 2000
    ..An acute blood pressure increase inhibits fluid and NaC1 reabsorption in rate proximal tubules, and this response is associated with a rapid internalization of apical Na+/H+..
  40. YsrRS regulon of Y. enterocolitica
    VIRGINIA MILLER; Fiscal Year: 2009
    ..secreted through the Ysa TTSS, and in vitro secretion has only been observed at 26 degrees C in L-broth with high NaC1 concentrations...
  41. ENaC & CFTR: Molecular Interactions in Health & Disease
    MADIREDDI REDDY; Fiscal Year: 2006
    ..We believe that elucidating the molecular interactions between these channels will contribute to understanding several disease processes evolving from disturbance in NaC1 retention and elimination.
  42. Physiology of S aureus Vancomycin Resistance
    BRIAN WILKINSON; Fiscal Year: 2001
    ..Cell wall alterations appear to be involved in vancomycin resistance. I will attempt to understand the increased NaC1-sensitivitv of GISA strains through studying the accumulation of compatible solutes...
  43. PROGRAMMED RENAL CELL RESPONSE TO HYPEROSMOLALITY
    Steven Gullans; Fiscal Year: 2002
    Renal medulla accumulates high concentrations of urea and NaC1 that vary according to hydration state and dietary protein intake...
  44. CELL MEMBRANE DETERMINANTS OF NAC1 TRANSPORT
    ISIDORE EDELMAN; Fiscal Year: 1980
    ..The separated surfaces are being analyzed in terms of their chemical constituents and enzymatic profiles. The effects of hormones will be analyzed by studies on membrane enzymes and isotope incorporation...
  45. DROSOPHILA HMG PROTEINS
    JOHN MAYFIELD; Fiscal Year: 1980
    ..Chromatin fractionation by partial precipitation with 0.1M NaC1 or 2mM MgCl2 will be attempted and these methods will be accessed for their suitability as a means for ..
  46. CONTROL OF POLYPEPTIDE CHAIN ELONGATION IN EUCARYOTES
    LAWRENCE SLOBIN; Fiscal Year: 1993
    ..5 M NaC1 (the proteins contain the RNAse activity as well as specific mRNA binding proteins) with salt-washed mRNPs...
  47. INTERACTION OF CFTR AND EPITHELIAL NA CHANNELS
    Douglas Eaton; Fiscal Year: 2003
    ..Activation of both CFTR and epithelial Na channels (ENaC) may lead to dramatic increases in NaC1 entry into cells and associated cell swelling, so it is important that cells control NaC1 entry to avoid large ..
  48. PHYSIOLOGY OF MUCUS-SECRETING SALIVARY GLANDS
    JAMES MELVIN; Fiscal Year: 2009
    ..initially secrete an isotonic, plasma-like fluid;duct cells subsequently modify this primary secretion to conserve NaC1. Both the fluid secretion and NaC1 reabsorption processes are dependent upon the coordinated action of multiple Na+ ..
  49. Transcriptional Regulation of NHE3 in Human Intestine
    Krishnamurthy Ramaswamy; Fiscal Year: 2006
    The molecular mechanisms involved in the regulation of absorption of the human intestinal NaC1 mediated the concerted action of dual ion exchanges of Na+/H+ and Cl-/HCO3 is not well understood...
  50. PATHOPHYSIOLOGY OF INTESTINAL SECRETION IN DIARRHEA
    Uma Sundaram; Fiscal Year: 2000
    ..In these cells coupled NaC1 absorption occurs by the dual operation of Na:H and C1:HC03 exchange on the brush border membrane (BBM), and HCO3 ..
  51. MOLECULAR MECHANISMS OF PROXIMAL TUBULE ION TRANSPORT
    PETER ARONSON; Fiscal Year: 2006
    ..research program directed at identifying and characterizing the ion exchangers mediating acid-base and NaC1 transport in the proximal tubule...
  52. NAC1 and Proteasome Involvement in Cocaine Use
    Ryan LaLumiere; Fiscal Year: 2009
    The specific aims of the proposed experiments are: 1) To determine how NAC1 over expression in the nucleus accumbens (NAc) of rats affects the acquisition, maintenance, and reinstatement of cocaine self- administration...
  53. STRUCTURE AND FUNCTION OF YEAST H1 HISTONES
    Chi Bom Chae; Fiscal Year: 1993
    ..Furthermore, the H1-like activity can be extracted by 0.6 M NaC1, and chromatosomes can be assembled from H1-depleted chromatin in the presence of the 0.6 M extract...
  54. Molecular Analysis of Epilepsy Predisposition
    John Cowell; Fiscal Year: 2006
    ..The epilepsy genes which were first described encoded voltage-gated sodium channels, SCN1A, SCN2A and SCN1B and a GABA receptor subunit, GABRG2...
  55. Development of Digital SNP Analysis in Cancer Detection
    Ie Ming Shih; Fiscal Year: 2005
    ..Thus, the encouraging results from this study will ensure the detection of AI in plasma a promising cancer research direction for further exploration. ..
  56. 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. ..
  57. Austin 5HT Candidate Gene Discovery with C Elegans
    J Jay Gargus; Fiscal Year: 2007
    ..unreadable] [unreadable]..
  58. LONG TERM EFFECTS OF SEIZURES ON THE DEVELOPING BRAIN
    Gregory Holmes; Fiscal Year: 2002
    ..Results of this study should provide additional insights into our understanding of the long- term consequences of seizures on the developing brain. ..
  59. GABAA RECEPTOR CHANNEL ALTERATION BY PROLONGED SEIZURES
    Robert MacDonald; Fiscal Year: 2003
    ....
  60. Sodium Channel Beta Subunit Cell Adhesive Interactions
    Lori L Isom; Fiscal Year: 2010
    ....