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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Udgivet i: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.
Format: Artigo
Sprog:Inglês
Udgivet: Lippincott Williams & Wilkins 2017
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Article
Online adgang: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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