Article
Epileptic phenotypes in children with respiratory chain disorders.
Epilepsia - 1 Jul 2010
El Sabbagh Sandra, Lebre Anne-Sophie, Bahi-Buisson Nadia, Delonlay Pascale, Soufflet Christine, Boddaert Nathalie, Rio Marlène, Rötig Agnès, Dulac Olivier, Munnich Arnold, Desguerre Isabelle
Abstract excerpt
PURPOSE: Epilepsy is a commonly reported but rarely described clinical hallmark of mitochondrial respiratory chain defects (RCDs) with encephalopathy. METHODS: From 1990-2006 we collected data about 56 children with RCD (single, n = 24 or multiple, n = 20 mitochondrial complex deficiencies; mtDNA mutation, n = 11; mtDNA depletion n = 10 of 21; and nuclear gene mutation n = 11). Epileptic features were reviewed...
Topics
- Adolescent
- Child
- Child, Preschool
- Electron Transport
- Epilepsy
- Female
- Humans
- Infant
- Infant, Newborn
- Male
- Mitochondrial Diseases