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https://hdl.handle.net/2440/7744
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Type: | Journal article |
Title: | Generalized epilepsy with febrile seizures plus: Mutation of the sodium channel subunit SCN1B |
Author: | Wallace, R. Scheffer, I. Parasivam, G. Barnett, S. Wallace, G. Sutherland, G. Berkovic, S. Mulley, J. |
Citation: | Neurology, 2002; 58(9):1426-1429 |
Publisher: | Lippincott Williams & Wilkins |
Issue Date: | 2002 |
ISSN: | 0028-3878 1526-632X |
Abstract: | 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. |
Keywords: | Humans Epilepsy, Generalized Seizures, Febrile Sodium Channels Nerve Tissue Proteins Protein Subunits Genetic Markers Amino Acid Substitution Pedigree Comorbidity Haplotypes Phenotype Mutation Child Child, Preschool Infant Infant, Newborn Queensland Female Male Genetic Testing Genetic Linkage Voltage-Gated Sodium Channel beta-2 Subunit |
Description: | Copyright © 2002 American Academy of Neurology |
DOI: | 10.1212/WNL.58.9.1426 |
Description (link): | http://www.neurology.org/cgi/content/abstract/58/9/1426 |
Published version: | http://dx.doi.org/10.1212/wnl.58.9.1426 |
Appears in Collections: | Aurora harvest Paediatrics publications |
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