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Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations

Scheffer, Ingrid E., Harkin, Louise A., Grinton, Bronwyn E., Dibbens, Leanne M., Turner, Samantha J., Zielinski, Marta A., Xu, Ruwei, Jackson, Graeme D., Adams, Judith, Connellan, Mary, Petrou, Steven, Wellard, R. Mark, Briellmann, Regula S., Wallace, Robyn H., Mulley, John C., & Berkovic, Samuel F. (2007) Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. Brain, 130(1), pp. 100-109.

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Abstract

SCN1B, the gene encoding the sodium channel b 1 subunit, was the first gene identified for generalized epilepsy with febrile seizures plus (GEFS+). Only three families have been published with SCN1B mutations. Here, we present four new families with SCN1B mutations and characterize the associated phenotypes. Analysis of SCN1B was performed on 402 individuals with various epilepsy syndromes. Four probands with missense mutations were identified. Detailed electroclinical phenotyping was performed on all available affected family members including quantitative MR imaging in those with temporal lobe epilepsy (TLE). Two new families with the original C121W SCN1B mutation were identified; novel mutations R85C and R85H were each found in one family. The following phenotypes occurred in the six families with SCN1B missense mutations: 22 febrile seizures, 20 febrile seizures plus, five TLE, three other GEFS+ phenotypes, two unclassified and ten unaffected individuals. All individuals with confirmed TLE had the C121W mutation; two underwent temporal lobectomy (one with hippocampal sclerosis and one without) and both are seizure free. We confirm the role of SCN1B in GEFS+ and show that the GEFS+ spectrum may include TLE alone. TLE with an SCN1B mutation is not a contraindication to epilepsy surgery.

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ID Code: 6849
Item Type: Journal Article
Additional Information: For more information, please refer to the journal's website (see link) or contact the author. Author contact details: m.wellard@qut.edu.au
Keywords: Epilepsy, GEFS+, TLE, sodium channel, genetics
DOI: 10.1093/brain/awl272
ISSN: 1460-2156
Subjects: Australian and New Zealand Standard Research Classification > BIOLOGICAL SCIENCES (060000) > GENETICS (060400) > Quantitative Genetics (incl. Disease and Trait Mapping Genetics (060412)
Australian and New Zealand Standard Research Classification > BIOLOGICAL SCIENCES (060000) > GENETICS (060400) > Gene Expression (incl. Microarray and other genome-wide approaches) (060405)
Australian and New Zealand Standard Research Classification > BIOLOGICAL SCIENCES (060000) > BIOCHEMISTRY AND CELL BIOLOGY (060100) > Cell Metabolism (060104)
Australian and New Zealand Standard Research Classification > BIOLOGICAL SCIENCES (060000) > GENETICS (060400) > Neurogenetics (060410)
Australian and New Zealand Standard Research Classification > BIOLOGICAL SCIENCES (060000) > PHYSIOLOGY (060600) > Animal Physiology - Cell (060602)
Australian and New Zealand Standard Research Classification > BIOLOGICAL SCIENCES (060000) > BIOCHEMISTRY AND CELL BIOLOGY (060100) > Receptors and Membrane Biology (060110)
Australian and New Zealand Standard Research Classification > TECHNOLOGY (100000) > MEDICAL BIOTECHNOLOGY (100400) > Medical Biotechnology Diagnostics (incl. Biosensors) (100402)
Australian and New Zealand Standard Research Classification > BIOLOGICAL SCIENCES (060000) > BIOCHEMISTRY AND CELL BIOLOGY (060100) > Cell Neurochemistry (060105)
Australian and New Zealand Standard Research Classification > BIOLOGICAL SCIENCES (060000) > BIOCHEMISTRY AND CELL BIOLOGY (060100) > Protein Trafficking (060108)
Divisions: Past > QUT Faculties & Divisions > Faculty of Science and Technology
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2007 (The authors): Licensed to Oxford University Press
Deposited On: 13 Apr 2007
Last Modified: 29 Feb 2012 23:40

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