The phenotype caused by recessive variations in SLC25A22: Report of a new case and literature review-Reference-Cited by-同舟云学术

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The phenotype caused by recessive variations in SLC25A22: Report of a new case and literature review

Published:2021-01 Issue:1 Volume:28 Page:87-92
ISSN:0929-693X
Container-title:Archives de Pédiatrie
language:en
Short-container-title:Archives de Pédiatrie

Author:

André M.-V.,Cacciagli P.,Cano A.,Vaugier L.,Roussel M.,Girard N.,Chabrol B.,Villard L.,Milh M.

Funder

JED Fondation Belgique, Inserm, and Aix Marseille University

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology, and Child Health

Reference9 articles.

1. Two siblings with early infantile myoclonic encephalopathy due to mutation in the gene encoding mitochondrial glutamate/H+ symporter SLC25A22;Cohen;Eur J Paediatr Neurol,2014

2. Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy;Molinari;Am J Hum Genet,2005

3. Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts;Molinari;Clin Genet,2009

4. SLC25A22 is a novel gene for migrating partial seizures in infancy;Poduri;Ann Neurol,2013

5. Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay;Reid;J Inherit Metab Dis,2017

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1. Effects of Long-Term Administration of Q808 on Hippocampal Transcriptome in Healthy Rats;Chemical and Pharmaceutical Bulletin;2022-09-01

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