Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.

doi:10.1093/hmg/ddw157

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Article

Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.

Human molecular genetics - 15 Jul 2016

Palmer Elizabeth E, Jarrett Kelsey E, Sachdev Rani K, Al Zahrani Fatema, Hashem Mais Omar, Ibrahim Niema, Sampaio Hugo, Kandula Tejaswi, Macintosh Rebecca, Gupta Rajat, Conlon Donna M, Billheimer Jeffrey T, Rader Daniel J, Funato Kouichi, Walkey Christopher J, Lee Chang Seok, Loo Christine, Brammah Susan, Elakis George, Zhu Ying, Buckley Michael, Kirk Edwin P, Bye Ann, Alkuraya Fowzan S, Roscioli Tony, Lagor William R

Abstract excerpt

We report an individual who presented with severe neurodevelopmental delay and an intractable infantile-onset seizure disorder. Exome sequencing identified a homozygous single nucleotide change that abolishes a splice donor site in the ARV1 gene (c.294 + 1G > A homozygous). This variant completely prevented splicing in minigene assays, and resulted in exon skipping and an in-frame deletion of 40 amino acids in...

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PMID: 27270415
DOI: 10.1093/hmg/ddw157
PMCID: PMC5181598

Genes

ARV1

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