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Article

Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation.

Journal of child neurology - 1 Sept 2014

Demarest Scott T, Whitehead Matthew T, Turnacioglu Sinan, Pearl Phillip L, Gropman Andrea L

Abstract excerpt

The A to G mitochondrial DNA point mutation at position 3243 (A3243G) is the most common cause of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS), a systemic multiorgan disease. Epilepsy is a common finding but there is wide phenotypic variation that has not been thoroughly explored. We report the epilepsy phenotypes of 7 patients with the A3243G mutation. Most presented with...

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Identifiers

PMID: 25038129
DOI: 10.1177/0883073814538511

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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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