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Novel SCN1A mutation in a patient with Malignant Migrating Partial Seizures of Infancy

OBJECTIVE: A novel SCN1A mutation was discovered in a patient who clinically fulfilled the criteria for malignant migrating partial seizures of infancy. The full-term female patient had seizure onset at two months, with progression of hemiclonic, apneic, and generalized tonic-clonic seizures leading...

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Detalhes bibliográficos
Main Authors: Freilich, Emily R., Jones, Julie M., Reyes, Christine, Dib-Hajj, Sulayman, Waxman, Stephen G., Meisler, Miriam H., Pearl, Phillip L.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3092158/
https://ncbi.nlm.nih.gov/pubmed/21555645
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/archneurol.2011.98
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