Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group-Reference-Cited by-同舟云学术

Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group

Published:2019-07-08 Issue:11 Volume:27 Page:1692-1700
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Lemattre Camille,Imbert-Bouteille Marion,Gatinois Vincent,Benit Paule,Sanchez Elodie,Guignard Thomas^ORCID,Tran Mau-Them Frédéric,Haquet Emmanuelle,Rivier François,Carme Emilie,Roubertie Agathe,Boland Anne,Lechner Doris,Meyer Vincent,Thevenon Julien^ORCID,Duffourd Yannis,Rivière Jean-Baptiste^ORCID,Deleuze Jean-François,Wells Constance,Molinari Florence,Rustin Pierre,Blanchet Patricia,Geneviève David

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s41431-019-0433-2.pdf

Reference20 articles.

1. Ohtahara S, Yamatogi Y. Epileptic encephalopathies in early infancy with suppression-burst. J Clin Neurophysiol. 2003;20:398–407.

2. Molinari F, Raas-Rothschild A, Rio M, Fiermonte G, Encha-Razavi F, Palmieri L, et al. Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclinic epilepsy. Am J Hum Genet. 2005;76:334–9.

3. Molinari F, Kaminska A, Fiermonte G, Boddaert N, Raas-Rothschild A, Plouin P, et al. Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts. Clin Genet. 2009;76:188–94.

4. Fiermonte G, Palmieri L, Todisco S, Agrimi G, Palmieri F, Walker JE. Identification of the mitochondrial glutamate transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms. J Biol Chem. 2002;277:19289–94.

5. Cohen R, Basel-Vanagaite L, Goldberg-Stern H, Halevy A, Shuper A, Feingold-Zadok M, et al. Two siblings with early infantile myoclonic encephalopathy due to mutation in the gene encoding mitochondrial glutamate/H+ symporter SLC25A22. Eur J Paediatr Neurol. 2014;18:801–5.

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