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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Lippincott Williams & Wilkins 2011
Pynciau:
Articles
Mynediad Ar-lein: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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