| Literature DB >> 19359143 |
Maija Bolszak1, Anna-Kaisa Anttonen, Tuomas Komulainen, Reetta Hinttala, Salla Pakanen, Raija Sormunen, Riitta Herva, Anna-Elina Lehesjoki, Kari Majamaa, Heikki Rantala, Johanna Uusimaa.
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.Entities:
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Year: 2009 PMID： 19359143 DOI： 10.1016/j.eplepsyres.2009.03.004
Source DB: PubMed Journal: Epilepsy Res ISSN： 0920-1211 Impact factor: 3.045