Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy

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 completel...

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Publicado no:Hum Mol Genet
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2016
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5181598/
https://ncbi.nlm.nih.gov/pubmed/27270415
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw157
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