Article
SCN1A testing for epilepsy: application in clinical practice.
Epilepsia - 1 May 2013
Hirose Shinichi, Scheffer Ingrid E, Marini Carla, De Jonghe Peter, Andermann Eva, Goldman Alica M, Kauffman Marcelo, Tan Nigel C K, Lowenstein Daniel H, Sisodiya Sanjay M, Ottman Ruth, Berkovic Samuel F
Abstract excerpt
This report is a practical reference guide for genetic testing of SCN1A, the gene encoding the α1 subunit of neuronal voltage-gated sodium channels (protein name: Nav 1.1). Mutations in this gene are frequently found in Dravet syndrome (DS), and are sometimes found in genetic epilepsy with febrile seizures plus (GEFS+), migrating partial seizures of infancy (MPSI), other infantile epileptic encephalopathies, and...
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