Brain Advance Access published online on October 4, 2006
Brain, doi:10.1093/brain/awl272
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1 Department of Medicine (Neurology), University of Melbourne, Austin Health, Melbourne, Victoria, Australia; Austin Health, Melbourne, Victoria, Australia; Department of Neurology and Paediatrics, Royal Children's Hospital, Melbourne, Victoria, Australia; Department of Neurosciences, Monash Medical Centre, Melbourne, Victoria, Australia
* To whom correspondence should be addressed. SCN1B, the gene encoding the sodium channel
Received March 16, 2006
Revised June 5, 2006
Accepted August 30, 2006
Article
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations
Ingrid E. Scheffer 1 *, Louise A. Harkin 2, Bronwyn E. Grinton 3, Leanne M. Dibbens 2, Samantha J. Turner 3, Marta A. Zielinski 4, Ruwei Xu 5, Graeme Jackson 6, Judith Adams 3, Mary Connellan 3, Steven Petrou 5, R. Mark Wellard 6, Regula S. Briellmann 6, Robyn H. Wallace 4, John C. Mulley 7, and Samuel F. Berkovic 3
2 Department of Paediatrics, University of Adelaide, Adelaide, South Australia, Australia; Department of Genetic Medicine, Women's and Children's Hospital, Adelaide, South Australia, Australia
3 Department of Medicine (Neurology), University of Melbourne, Austin Health, Melbourne, Victoria, Australia; Austin Health, Melbourne, Victoria, Australia
4 Department of Genetic Medicine, Women's and Children's Hospital, Adelaide, South Australia, Australia
5 Howard Florey Institute of Experimental Physiology and Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, Australia
6 Brain Research Institute, Austin Health, Melbourne, Victoria, Australia
7 School of Molecular and Biomedical Sciences, University of Adelaide, Adelaide, South Australia, Australia; Department of Genetic Medicine, Women's and Children's Hospital, Adelaide, South Australia, Australia
Ingrid E. Scheffer, E-mail: scheffer{at}unimelb.edu.au
Abstract 
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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