Article
Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations.
Neurology - 14 Mar 2017
Cetica Valentina, Chiari Sara, Mei Davide, Parrini Elena, Grisotto Laura, Marini Carla, Pucatti Daniela, Ferrari Annarita, Sicca Federico, Specchio Nicola, Trivisano Marina, Battaglia Domenica, Contaldo Ilaria, Zamponi Nelia, Petrelli Cristina, Granata Tiziana, Ragona Francesca, Avanzini Giuliano, Guerrini Renzo
Abstract excerpt
OBJECTIVE: To explore the prognostic value of initial clinical and mutational findings in infants with SCN1A mutations. METHODS: Combining sex, age/fever at first seizure, family history of epilepsy, EEG, and mutation type, we analyzed the accuracy of significant associations in predicting Dravet syndrome vs milder outcomes in 182 mutation carriers ascertained after seizure onset. To assess the diagnostic...
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