Digenic mutations in severe myoclonic epilepsy of infancy.
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.
Bolszak
Maija
M
Department of Pediatrics, University of Oulu, Finland.
Anttonen
Anna-Kaisa
AK
Komulainen
Tuomas
T
Hinttala
Reetta
R
Pakanen
Salla
S
Sormunen
Raija
R
Herva
Riitta
R
Lehesjoki
Anna-Elina
AE
Majamaa
Kari
K
Rantala
Heikki
H
Uusimaa
Johanna
J
D004247:DNA / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D046529:Microscopy, Electron, Transmission; D008928:Mitochondria / Q000473:pathology / Q000648:ultrastructure; D028361:Mitochondrial Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology / Q000648:ultrastructure; D009154:Mutation / Q000502:physiology*; D020190:Myoclonic Epilepsy, Juvenile / Q000150:complications / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D020133:Reverse Transcriptase Polymerase Chain Reaction
D004272:DNA, Mitochondrial; D004247:DNA