De novo SCN1A mutations in migrating partial seizures of infancy

OBJECTIVE: To determine the genetic etiology of the severe early infantile onset syndrome of malignant migrating partial seizures of infancy (MPSI). METHODS: Fifteen unrelated children with MPSI were screened for mutations in genes associated with infantile epileptic encephalopathies: SCN1A, CDKL5,...

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Detalhes bibliográficos
Main Authors: Carranza Rojo, D., Hamiwka, L., McMahon, J.M., Dibbens, L.M., Arsov, T., Suls, A., Stödberg, T., Kelley, K., Wirrell, E., Appleton, B., Mackay, M., Freeman, J.L., Yendle, S.C., Berkovic, S.F., Bienvenu, T., De Jonghe, P., Thorburn, D.R., Mulley, J.C., Mefford, H.C., Scheffer, I.E.
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2011
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3140798/
https://ncbi.nlm.nih.gov/pubmed/21753172
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e318227046d
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