Two siblings with early infantile myoclonic encephalopathy due to mutation in the gene encoding mitochondrial glutamate/H+ symporter SLC25A22-Reference-Cited by-同舟云学术

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Two siblings with early infantile myoclonic encephalopathy due to mutation in the gene encoding mitochondrial glutamate/H+ symporter SLC25A22

Published:2014-11 Issue:6 Volume:18 Page:801-805
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Cohen Rony,Basel-Vanagaite Lina,Goldberg-Stern Hadassah,Halevy Ayelet,Shuper Avinoam,Feingold-Zadok Michal,Behar Doron M.,Straussberg Rachel

Publisher

Elsevier BV

Subject

Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health

Reference12 articles.

1. Diagnostic algorithm for the evaluation of early onset genetic-metabolic epileptic encephalopathies;Mastrangelo;Eur J Paediatr Neurol,2012

2. Are early myoclonic encephalopathy (EME) and the Ohtahara syndrome (EIEE) independent of each other?;Djukic;Epilepsy Res,2006

3. Ohtahara syndrome with emphasis on recent genetic discovery;Pavone;Brain Dev,2012

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

5. Epileptic encephalopathies in early infancy with suppression-burst;Ohtahara;J Clin Neurophysiol,2003

Cited by 26 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Importance of targeted next-generation sequencing in pediatric patients with developmental epileptic encephalopathy;Revista da Associação Médica Brasileira;2023

2. SLC25A22 and Its Related Epileptic Encephalopathies;Journal of Pediatric Neurology;2021-04-14

3. De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype;Journal of Neurogenetics;2021-04-03

4. CRISPR-Mediated Induction of Neuron-Enriched Mitochondrial Proteins Boosts Direct Glia-to-Neuron Conversion;Cell Stem Cell;2021-03

5. The phenotype caused by recessive variations in SLC25A22: Report of a new case and literature review;Archives de Pédiatrie;2021-01

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