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Article

SCN1A Mutation Analysis in Myoclonic Astatic Epilepsy and Severe Idiopathic Generalized Epilepsy of Infancy with Generalized Tonic-Clonic Seizures

1 Jun 2005

Abstract excerpt

Severe myoclonic epilepsy in infancy (SMEI), severe idiopathic generalized epilepsy of infancy (SIGEI) with generalized tonic clonic seizures (GTCS), and myoclonic astatic epilepsy (MAE) may show semiological overlaps. In GEFS+ families, all three phenotypes were found associated with mutations in the SCN1A gene. We analyzed the SCN1A gene in 20 patients with non-familial myoclonic astatic epilepsy -- including...

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Identifiers

PMID: 15944908
DOI: 10.1055/s-2005-865607

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SCN1A Mutation Analysis in Myoclonic Astatic Epilepsy and Severe Idiopathic Generalized Epilepsy of Infancy with Generalized Tonic-Clonic SeizuresPMID 15944908Read ↗

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