Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.
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Hum Mol Genet. 2016 Jul 15;25(14):3042-3054. doi: 10.1093/hmg/ddw157. Epub 2016 Jun 6.
Hum Mol Genet. 2016.
PMID: 27270415
Free PMC article.