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Article

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

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Nov 2014

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

Abstract excerpt

AIM: To characterize a new subset of early myoclonic encephalopathy usually associated with metabolic etiologies with a new genetic entity. METHODS: We describe two siblings with early myoclonic encephalopathy born to consanguineous parents of Arab Muslim origin from Israel. We used homozygosity mapping and candidate gene sequencing to reveal the genetic basis of the myoclonic syndrome. RESULTS: We found a rare...

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Identifiers

PMID: 25033742
DOI: 10.1016/j.ejpn.2014.06.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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