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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Detalhes bibliográficos
Publicado no:Neurology
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5589790/
https://ncbi.nlm.nih.gov/pubmed/28794249
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000004331
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