Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy
- PMID: 12083760
- DOI: 10.1016/s0006-291x(02)00617-4
Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy
Abstract
To investigate the possible correlation 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 from peripheral blood cells of 29 patients with severe myoclonic epilepsy in infancy (SME) and 11 patients with other types of epilepsy. Mutations of the SCN1A gene were detected in 24 of the 29 patients (82.7%) with SME, although none with other types of epilepsy. The mutations included deletion, insertion, missense, and nonsense mutations. We could not find any mutations of the SCN1B and GABRG2 genes in all patients. Our data suggested that the SCN1A mutations were significantly correlated with SME (p<.0001). As we could not find SCN1A mutations in their parents, one of critical causes of SME may be de novo mutation of the SCN1A gene occurred in the course of meiosis in the parents.
(c) 2002 Elsevier Science (USA).
Similar articles
-
Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity.Neurology. 2004 Jul 27;63(2):329-34. doi: 10.1212/01.wnl.0000129829.31179.5b. Neurology. 2004. PMID: 15277629 Review.
-
[Mutation analysis of the SCN1A gene in severe myoclonic epilepsy of infancy].Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Apr;26(2):121-7. doi: 10.3760/cma.j.issn.1003-9406.2009.02.001. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009. PMID: 19350499 Chinese.
-
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).Epilepsia. 2004 Feb;45(2):140-8. doi: 10.1111/j.0013-9580.2004.15103.x. Epilepsia. 2004. PMID: 14738421
-
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.Am J Hum Genet. 2001 Jun;68(6):1327-32. doi: 10.1086/320609. Epub 2001 May 15. Am J Hum Genet. 2001. PMID: 11359211 Free PMC article.
-
Clinical spectrum of SCN1A mutations.Epilepsia. 2009 May;50 Suppl 5:20-3. doi: 10.1111/j.1528-1167.2009.02115.x. Epilepsia. 2009. PMID: 19469841 Review.
Cited by
-
Fast pseudo-periodic oscillation in the rat brain voltage-gated sodium channel alpha subunit.J Membr Biol. 2005 Nov;208(1):1-14. doi: 10.1007/s00232-005-0814-z. J Membr Biol. 2005. PMID: 16596442
-
Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.Pharmacol Rev. 2018 Jan;70(1):142-173. doi: 10.1124/pr.117.014456. Pharmacol Rev. 2018. PMID: 29263209 Free PMC article. Review.
-
Inherited Channelopathies Associated with Epilepsy.Epilepsy Curr. 2004 Mar;4(2):65-70. doi: 10.1111/j.1535-7597.2004.42010.x. Epilepsy Curr. 2004. PMID: 15562308 Free PMC article.
-
Mice lacking sodium channel beta1 subunits display defects in neuronal excitability, sodium channel expression, and nodal architecture.J Neurosci. 2004 Apr 21;24(16):4030-42. doi: 10.1523/JNEUROSCI.4139-03.2004. J Neurosci. 2004. PMID: 15102918 Free PMC article.
-
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.PLoS Genet. 2009 Feb;5(2):e1000381. doi: 10.1371/journal.pgen.1000381. Epub 2009 Feb 13. PLoS Genet. 2009. PMID: 19214208 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Molecular Biology Databases
Research Materials
