Article
Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.
Epilepsia - 1 Jun 2013
Uusimaa Johanna, Gowda Vasantha, McShane Anthony, Smith Conrad, Evans Julie, Shrier Annie, Narasimhan Manisha, O'Rourke Anthony, Rajabally Yusuf, Hedderly Tammy, Cowan Frances, Fratter Carl, Poulton Joanna
Abstract excerpt
PURPOSE: To assess the frequency and clinical features of childhood-onset intractable epilepsy caused by the most common mutations in the POLG gene, which encodes the catalytic subunit of mitochondrial DNA polymerase gamma. METHODS: Children presenting with nonsyndromic intractable epilepsy of unknown etiology but without documented liver dysfunction at presentation were eligible for this prospective,...
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