Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations

OBJECTIVE: To describe electroclinical features and outcome of 6 patients harboring KCNB1 mutations. METHODS: Clinical, EEG, neuropsychological, and brain MRI data analysis. Targeted next-generation sequencing of a 95 epilepsy gene panel. RESULTS: The mean age at seizure onset was 11 months. The mea...

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Detalles Bibliográficos
Autores principales: Marini, Carla, Romoli, Michele, Parrini, Elena, Costa, Cinzia, Mei, Davide, Mari, Francesco, Parmeggiani, Lucio, Procopio, Elena, Metitieri, Tiziana, Cellini, Elena, Virdò, Simona, De Vita, Dalila, Gentile, Mattia, Prontera, Paolo, Calabresi, Paolo, Guerrini, Renzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733250/
https://www.ncbi.nlm.nih.gov/pubmed/29264397
http://dx.doi.org/10.1212/NXG.0000000000000206

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