Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype

OBJECTIVE: To define a distinct SCN1A developmental and epileptic encephalopathy with early onset, profound impairment, and movement disorder. METHODS: A case series of 9 children were identified with a profound developmental and epileptic encephalopathy and SCN1A mutation. RESULTS: We identified 9...

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Detalles Bibliográficos
Autores principales: Sadleir, Lynette G., Mountier, Emily I., Gill, Deepak, Davis, Suzanne, Joshi, Charuta, DeVile, Catherine, Kurian, Manju A., Mandelstam, Simone, Wirrell, Elaine, Nickels, Katherine C., Murali, Hema R., Carvill, Gemma, Myers, Candace T., Mefford, Heather C., Scheffer, Ingrid E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5589790/
https://www.ncbi.nlm.nih.gov/pubmed/28794249
http://dx.doi.org/10.1212/WNL.0000000000004331

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