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Article

Compound heterozygous polymerase gamma gene mutation in a patient with Alpers disease.

Seminars in pediatric neurology - 1 Mar 2010

Cardenas Javier F, Amato R Stephen

Abstract excerpt

Alpers disease is a mitochondrial depletion syndrome characterized by psychomotor retardation, intractable epilepsy, and liver failure. Polymerase gamma (POLG) gene mutations are a known cause of the disease. We describe a case in which a 14-month-old female presented with epilepsia partialis continua evolving into generalized status epilepticus. Treatment with multiple antiepileptic medications and the ketogenic...

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Source

Identifiers

PMID: 20434700
DOI: 10.1016/j.spen.2010.02.012

Genes

POLG

Provenance

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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