Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy

Brain channelopathies represent a growing class of brain disorders that usually result in paroxysmal disorders, although their role in other neurological phenotypes, including the recently described NALCN-related infantile encephalopathy, is increasingly recognized. In three Saudi Arabian families a...

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Bibliografiska uppgifter
I publikationen:Am J Hum Genet
Huvudupphovsmän: Shamseldin, Hanan E., Faqeih, Eissa, Alasmari, Ali, Zaki, Maha S., Gleeson, Joseph G., Alkuraya, Fowzan S.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Elsevier 2016
Ämnen:
Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4716667/
https://ncbi.nlm.nih.gov/pubmed/26708753
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.11.013
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