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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Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: Lippincott Williams & Wilkins 2011
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Articles
Accès en ligne: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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