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Article

Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy.

Epilepsy & behavior : E&B - 1 Sept 2009

Gramstad Arne, Bindoff Laurence A, Lillebø Atle, Tzoulis Charalampos, Engelsen Bernt A

Abstract excerpt

Mutations in the catalytic subunit of polymerase gamma (POLG1) produce a wide variety of neurological disorders including a progressive ataxic syndrome with epilepsy: mitochondrial spinocerebellar ataxia and epilepsy (MSCAE). Our earlier studies of patients with this syndrome raised the possibility of more prominent right than left hemisphere dysfunction. To investigate this in more detail, eight patients (six...

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Identifiers

PMID: 19435586
DOI: 10.1016/j.yebeh.2009.01.014

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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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