Document Detail


Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.
MedLine Citation:
PMID:  12011299     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Generalized epilepsy with febrile seizures plus (GEFS(+)) is an important childhood genetic epilepsy syndrome with heterogeneous phenotypes, including febrile seizures (FS) and generalized epilepsies of variable severity. Forty unrelated GEFS(+) and FS patients were screened for mutations in the sodium channel beta-subunits SCN1B and SCN2B, and the second GEFS(+) family with an SCN1B mutation is described here. The family had 19 affected individuals: 16 with typical GEFS(+) phenotypes and three with other epilepsy phenotypes. Site-specific mutation within SCN1B remains a rare cause of GEFS(+), and the authors found no evidence to implicate SCN2B in this syndrome.
Authors:
R H Wallace; I E Scheffer; G Parasivam; S Barnett; G B Wallace; G R Sutherland; S F Berkovic; J C Mulley
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neurology     Volume:  58     ISSN:  0028-3878     ISO Abbreviation:  Neurology     Publication Date:  2002 May 
Date Detail:
Created Date:  2002-05-15     Completed Date:  2002-05-24     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1426-9     Citation Subset:  AIM; IM    
Affiliation:
Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, North Adelaide, Australia. robyn.wallace@adelaide.edu.au
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MeSH Terms
Descriptor/Qualifier:
Amino Acid Substitution
Child
Child, Preschool
Comorbidity
Epilepsy, Generalized / epidemiology,  genetics*
Female
Genetic Markers
Genetic Testing
Haplotypes / genetics
Humans
Infant
Infant, Newborn
Linkage (Genetics)
Male
Mutation
Nerve Tissue Proteins / genetics
Pedigree
Phenotype
Protein Subunits*
Queensland / epidemiology
Seizures, Febrile / epidemiology,  genetics*
Sodium Channels / genetics*
Chemical
Reg. No./Substance:
0/Genetic Markers; 0/Nerve Tissue Proteins; 0/Protein Subunits; 0/SCN2B protein, human; 0/Sodium Channels

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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