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A Novel SCN1A Mutation Associated with Generalized Epilepsy with Febrile Seizures Plus—and Prevalence of Variants in Patients with Epilepsy

We recently described mutations of the neuronal sodium-channel α-subunit gene, SCN1A, on chromosome 2q24 in two families with generalized epilepsy with febrile seizures plus (GEFS+) type 2. To assess the contribution that SCN1A makes to other types of epilepsy, 226 patients with either juvenile myoc...

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Autori principali: Escayg, Andrew, Heils, Armin, MacDonald, Bryan T., Haug, Karsten, Sander, Thomas, Meisler, Miriam H.
Natura: Artigo
Lingua:Inglês
Pubblicazione: The American Society of Human Genetics 2001
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1275640/
https://ncbi.nlm.nih.gov/pubmed/11254445
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