Digenic mutations in severe myoclonic epilepsy of infancy

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

doi:10.1016/j.eplepsyres.2009.03.004

Digenic mutations in severe myoclonic epilepsy of infancy

Epilepsy Res. 2009 Aug;85(2-3):300-4. doi: 10.1016/j.eplepsyres.2009.03.004. Epub 2009 Apr 9.

Authors

Maija Bolszak¹, Anna-Kaisa Anttonen, Tuomas Komulainen, Reetta Hinttala, Salla Pakanen, Raija Sormunen, Riitta Herva, Anna-Elina Lehesjoki, Kari Majamaa, Heikki Rantala, Johanna Uusimaa

Affiliation

¹ Department of Pediatrics, University of Oulu, Finland.

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

Abstract

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 recommend POLG1 gene analysis for SMEI patients before valproate administration.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

DNA / genetics
DNA, Mitochondrial / genetics
Humans
Infant
Male
Microscopy, Electron, Transmission
Mitochondria / pathology
Mitochondria / ultrastructure
Mitochondrial Diseases / complications
Mitochondrial Diseases / genetics*
Mitochondrial Diseases / pathology
Muscle, Skeletal / pathology
Muscle, Skeletal / ultrastructure
Mutation / physiology*
Myoclonic Epilepsy, Juvenile / complications
Myoclonic Epilepsy, Juvenile / genetics*
Myoclonic Epilepsy, Juvenile / pathology
Phenotype
Polymorphism, Restriction Fragment Length
Reverse Transcriptase Polymerase Chain Reaction

Substances

DNA, Mitochondrial
DNA