Brain Advance Access originally published online on October 4, 2006
Brain 2007 130(1):100-109; doi:10.1093/brain/awl272
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Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations
1 Department of Medicine (Neurology), University of Melbourne Melbourne, Victoria 2 Howard Florey Institute of Experimental Physiology and Medicine, University of Melbourne Melbourne, Victoria 3 Austin Health, Royal Children's Hospital Melbourne, Victoria 4 Brain Research Institute, Austin Health Melbourne, Victoria 5 Department of Neurology and Paediatrics, Royal Children's Hospital Melbourne, Victoria 6 Department of Neurosciences, Monash Medical Centre Melbourne, Victoria 7 School of Molecular and Biomedical Sciences, University of Adelaide Adelaide 8 Department of Paediatrics, University of Adelaide Adelaide 9 Department of Genetic Medicine, Women's and Children's Hospital Adelaide, South Australia, Australia
Correspondence to: Professor Ingrid Scheffer, Epilepsy Research Centre, Repatriation Campus, Austin Health, Locked Bag 1, West Heidelberg, Victoria, 3081, Australia E-mail: scheffer{at}unimelb.edu.au
SCN1B, the gene encoding the sodium channel ß 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.
Key Words: Epilepsy; GEFS+; TLE; sodium channel; genetics
Abbreviations: CPS, complex partial seizures; FS, febrile seizures; FS+, febrile seizures plus; GEFS+, generalized epilepsy with febrile seizures plus; GTCS, generalized tonic–clonic seizures; HS, hippocampal sclerosis; MAE, myoclonic–astatic epilepsy; SMEI, severe myoclonic epilepsy of infancy; SSCP, single-stranded conformation polymorphism analysis; TLE, temporal lobe epilepsy
Received March 16, 2006. Revised June 5, 2006. Accepted August 30, 2006.
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