Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

Valyl-tRNA synthetase (VARS) charges valyl-tRNA with the amino acid valine, required for translation. Here, the authors describe a progressive epileptic encephalopathy in individuals from five families carrying biallelic mutations in the VARS gene that leave the enzyme activity partially intact.

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Auteurs principaux: Jennifer Friedman, Desiree E. Smith, Mahmoud Y. Issa, Valentina Stanley, Rengang Wang, Marisa I. Mendes, Meredith S. Wright, Kristen Wigby, Amber Hildreth, John R. Crawford, Alanna E. Koehler, Shimul Chowdhury, Shareef Nahas, Liting Zhai, Zhiwen Xu, Wing-Sze Lo, Kiely N. James, Damir Musaev, Andrea Accogli, Kether Guerrero, Luan T. Tran, Tarek E. I. Omar, Tawfeg Ben-Omran, David Dimmock, Stephen F. Kingsmore, Gajja S. Salomons, Maha S. Zaki, Geneviève Bernard, Joseph G. Gleeson
Format: article
Langue:EN
Publié: Nature Portfolio 2019
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Science
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Accès en ligne:https://doaj.org/article/2b11aa05a4174343ac7596764303089f
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https://doaj.org/article/2b11aa05a4174343ac7596764303089f

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