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Sodium channel mutations in epilepsy and other neurological disorders

Since the first mutations of the neuronal sodium channel SCN1A were identified 5 years ago, more than 150 mutations have been described in patients with epilepsy. Many are sporadic mutations and cause loss of function, which demonstrates haploinsufficiency of SCN1A. Mutations resulting in persistent...

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Bibliografiske detaljer
Main Authors: Meisler, Miriam H., Kearney, Jennifer A.
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 2005
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180547/
https://ncbi.nlm.nih.gov/pubmed/16075041
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI25466
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