Biochem Biophys Res Commun. 2002 Jul 5;295(1):17-23.

Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.

Ohmori I, Ouchida M, Ohtsuka Y, Oka E, Shimizu K.

Source

Department of Child Neurology, Graduate School of Medicine and Dentistry, Okayama University, Shikata-cho 2-5-1, Okayama-shi, Okayama 700-8558, Japan.

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.

PMID:: 12083760; [PubMed - indexed for MEDLINE]

LinkOut - more resources

Full Text Sources

Medical

SCN1A Gene - Genetics Home Reference

Molecular Biology Databases

Supplemental Content

Save items

Related citations in PubMed

[Mutation analysis of the SCN1A gene in severe myoclonic epilepsy of infancy]. [Zhonghua Yi Xue Yi Chuan Xue Z...]
[Mutation analysis of the SCN1A gene in severe myoclonic epilepsy of infancy].
Sun H, Zhang Y, Liu X, Ma X, Wu H, Xu K, Qin J, Qi Y, Wu X. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Apr; 26(2):121-7.
Review Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity. [Neurology. 2004]
Review Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity.
Kanai K, Hirose S, Oguni H, Fukuma G, Shirasaka Y, Miyajima T, Wada K, Iwasa H, Yasumoto S, Matsuo M, et al. Neurology. 2004 Jul 27; 63(2):329-34.
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. [Am J Hum Genet. 2001]
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.
Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P. Am J Hum Genet. 2001 Jun; 68(6):1327-32. Epub 2001 May 15.
Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. [Pediatr Neurol. 2004]
Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.
Ceulemans BP, Claes LR, Lagae LG. Pediatr Neurol. 2004 Apr; 30(4):236-43.
Review Clinical spectrum of SCN1A mutations. [Epilepsia. 2009]
Review Clinical spectrum of SCN1A mutations.
Gambardella A, Marini C. Epilepsia. 2009 May; 50 Suppl 5:20-3.

See reviews... See all...

Cited by 17 PubMed Central articles

Review SCN1A mutations in Dravet syndrome: impact of interneuron dysfunction on neural networks and cognitive outcome. [Epilepsy Behav. 2012]
Review SCN1A mutations in Dravet syndrome: impact of interneuron dysfunction on neural networks and cognitive outcome.
Bender AC, Morse RP, Scott RC, Holmes GL, Lenck-Santini PP. Epilepsy Behav. 2012 Mar; 23(3):177-86. Epub 2012 Feb 16.
Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients. [Ann Indian Acad Neurol. 2011]
Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients.
Ozmen M, Dilber C, Tatlı B, Aydınlı N, Calışkan M, Ekici B. Ann Indian Acad Neurol. 2011 Jul; 14(3):178-81.
Review Genetics and function of neocortical GABAergic interneurons in neurodevelopmental disorders. [Neural Plast. 2011]
Review Genetics and function of neocortical GABAergic interneurons in neurodevelopmental disorders.
Rossignol E. Neural Plast. 2011; 2011:649325. Epub 2011 Aug 18.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene
Gene records that cite the current articles. Citations in Gene are added manually by NCBI or imported from outside public resources.
Gene (GeneRIF)
Gene records that have the current articles as Reference into Function citations (GeneRIFs). NLM staff reviewing the literature while indexing MEDLINE add GeneRIFs manually.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
HomoloGene
HomoloGene clusters of homologous genes and sequences that cite the current articles. These are references on the Gene and sequence records in the HomoloGene entry.
MedGen
Related information in MedGen
MedGen (OMIM)
Related information in MedGen (OMIM)
Nucleotide (RefSeq)
NCBI nucleotide Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (RefSeq)
NCBI protein Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
SNP (Cited)
Nucleotide polymorphism records from dbSNP that have NCBI dbSNP identifiers reported in the PubMed abstract of the current articles.
Taxonomy via GenBank
Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).
UniGene
UniGene clusters of expressed sequences that are associated with the current articles through references on the clustered sequence records and related Gene records.
Protein
Protein translation features of primary database (GenBank) nucleotide records reported in the current articles as well as Reference Sequences (RefSeqs) that include the articles as references.
SNP
Nucleotide polymorphism records from dbSNP that have current articles as submitter-provided references.
GEO Profiles
Gene Expression Omnibus (GEO) Profiles of molecular abundance data. The current articles are references on the Gene record associated with the GEO profile.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.
Cited in Books
NCBI Bookshelf books that cite the current articles.

Recent activity

Clear Turn Off Turn On

Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in ...
Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.
Biochem Biophys Res Commun. 2002 Jul 5 ;295(1):17-23.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.

Source

Abstract

Publication Types, MeSH Terms, Substances

Publication Types

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Medical

Molecular Biology Databases

Supplemental Content

Save items

Related citations in PubMed

Cited by 17 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information