Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
- 9 February 2009
- journal article
- review article
- Published by Elsevier in Brain & Development
- Vol. 31 (5), 394-400
- https://doi.org/10.1016/j.braindev.2009.01.001
Abstract
No abstract availableKeywords
This publication has 53 references indexed in Scilit:
- Reduced Sodium Current in Purkinje Neurons from NaV1.1 Mutant Mice: Implications for Ataxia in Severe Myoclonic Epilepsy in InfancyJournal of Neuroscience, 2007
- The spectrum of SCN1A-related infantile epileptic encephalopathiesBrain, 2007
- SCN1A Mutation Mosaicism in a Family with Severe Myoclonic Epilepsy in InfancyEpilepsia, 2006
- Microdeletions involving theSCN1A gene may be common inSCN1A-mutation-negative SMEI patientsHuman Mutation, 2006
- Parental mosaicism can cause recurrent transmission ofSCN1A mutations associated with severe myoclonic epilepsy of infancyHuman Mutation, 2006
- Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of InfancyBiochemical and Biophysical Research Communications, 2006
- A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizuresBrain & Development, 2005
- Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel α1 subunit gene, SCN1AEpilepsy Research, 2002
- Severe myoclonic epilepsy in infants – a review based on the Tokyo Women's Medical University series of 84 casesBrain & Development, 2001
- De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of InfancyAmerican Journal of Human Genetics, 2001