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Article

Digenic mutations in severe myoclonic epilepsy of infancy.

Epilepsy research - 1 Aug 2009

Bolszak Maija, Anttonen Anna-Kaisa, Komulainen Tuomas, Hinttala Reetta, Pakanen Salla, Sormunen Raija, Herva Riitta, Lehesjoki Anna-Elina, Majamaa Kari, Rantala Heikki, Uusimaa Johanna

Abstract excerpt

The clinical features of severe myoclonic epilepsy of infancy (SMEI) resemble those of mitochondrial diseases, although most patients have the sodium channel (SCN1A) mutation. We describe a patient with SMEI and enlarged muscle mitochondria associated with mutations in mitochondrial polymerase gamma 1 (POLG1) and SCN1A. Due to increased risk of valproate-induced liver failure in patients with POLG1 mutations, we...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19359143
DOI: 10.1016/j.eplepsyres.2009.03.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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