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Article

Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review.

Epilepsia - 1 Oct 2016

Anagnostou Maria-Eleni, Ng Yi Shiau, Taylor Robert W, McFarland Robert

Abstract excerpt

We performed a systematic review of the clinical, molecular, and biochemical features of polymerase gamma (POLG)-related epilepsy and current evidence on seizure management. Patients were identified from a combined electronic search of articles using Ovid Medline and Scopus databases, published from January 2000 to January 2015. Only patients with a confirmed genetic diagnosis of POLG mutations were considered....

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Identifiers

PMID: 27554452
DOI: 10.1111/epi.13508

Genes

POLG

Variants

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