Article
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
Epilepsia - 1 Sept 2007
Marini Carla, Mei Davide, Temudo Teresa, Ferrari Anna Rita, Buti Daniela, Dravet Charlotte, Dias Ana I, Moreira Ana, Calado Eulalia, Seri Stefano, Neville Brian, Narbona Juan, Reid Evan, Michelucci Roberto, Sicca Federico, Cross Helen J, Guerrini Renzo
Abstract excerpt
PURPOSE: SCN1A is the most clinically relevant epilepsy gene, most mutations lead to severe myoclonic epilepsy of infancy (SMEI) and generalized epilepsy with febrile seizures plus (GEFS+). We studied 132 patients with epilepsy syndromes with seizures precipitated by fever, and performed phenotype-genotype correlations with SCN1A alterations. METHODS: We included patients with SMEI including borderline SMEI...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
