Prospective study of POLG mutations presenting in children with intractable epilepsy: Prevalence and clinical features

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 unkno...

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Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Blackwell Publishing Ltd 2013
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Full-Length Original Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3757309/
https://ncbi.nlm.nih.gov/pubmed/23448099
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/epi.12115
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