| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 3052907 | Epilepsy Research | 2009 | 5 Pages |
Abstract
SummaryThe 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.
Related Topics
Life Sciences
Neuroscience
Neurology
Authors
Maija Bolszak, Anna-Kaisa Anttonen, Tuomas Komulainen, Reetta Hinttala, Salla Pakanen, Raija Sormunen, Riitta Herva, Anna-Elina Lehesjoki, Kari Majamaa, Heikki Rantala, Johanna Uusimaa,