Article
Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome.
Human mutation - 1 Dec 2013
Delmiro Aitor, Rivera Henry, García-Silva María Teresa, García-Consuegra Inés, Martín-Hernández Elena, Quijada-Fraile Pilar, de Las Heras Rogelio Simón, Moreno-Izquierdo Ana, Martín Miguel Ángel, Arenas Joaquín, Martínez-Azorín Francisco
Abstract excerpt
We describe a West syndrome (WS) patient with unidentified etiology that evolved to Lennox-Gastaut syndrome. The mitochondrial respiratory chain of the patient showed a simple complex I deficiency in fibroblasts. Whole-exome sequencing (WES) uncovered two heterozygous mutations in NDUFV2 gene that were reassigned to a pseudogene. With the WES data, it was possible to obtain whole mitochondrial DNA sequencing and...
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