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Article

POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.

Brain : a journal of neurology - 1 Mar 2008

Engelsen Bernt A, Tzoulis Charalampos, Karlsen Bjørn, Lillebø Atle, Laegreid Liv M, Aasly Jan, Zeviani Massimo, Bindoff Laurence A

Abstract excerpt

The epileptic semiology of 19 patients (from 15 families) with mitochondrial disease due to mutations in the POLG1 gene is presented. The patients were either homozygous for the 1399G > A (p.A467T) or 2243G > C (p.W748S) mutations or compound heterozygotes for these two mutations. While the clini...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18238797
DOI: 10.1093/brain/awn007

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18238797-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.PMID 18238797Read ↗

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