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.
Department of Pediatrics, University of Oulu, Finland.
Maija
M
Bolszak
Anna-Kaisa
AK
Anttonen
Tuomas
T
Komulainen
Reetta
R
Hinttala
Salla
S
Pakanen
Raija
R
Sormunen
Riitta
R
Herva
Anna-Elina
AE
Lehesjoki
Kari
K
Majamaa
Heikki
H
Rantala
Johanna
J
Uusimaa
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