SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures

OBJECTIVE: De novo SCN2A mutations have recently been associated with severe infantile-onset epilepsies. Herein, we define the phenotypic spectrum of SCN2A encephalopathy. METHODS: Twelve patients with an SCN2A epileptic encephalopathy underwent electroclinical phenotyping. RESULTS: Patients were ag...

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Detalhes bibliográficos
Publicado no:Neurology
Main Authors: Howell, Katherine B., McMahon, Jacinta M., Carvill, Gemma L., Tambunan, Dimira, Mackay, Mark T., Rodriguez-Casero, Victoria, Webster, Richard, Clark, Damian, Freeman, Jeremy L., Calvert, Sophie, Olson, Heather E., Mandelstam, Simone, Poduri, Annapurna, Mefford, Heather C., Harvey, A. Simon, Scheffer, Ingrid E.
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4567464/
https://ncbi.nlm.nih.gov/pubmed/26291284
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000001926
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