PubMed ID:
25787132
Public Release Type:
Journal
Publication Year: 2015
Affiliation: Department of Pediatrics, Section of Genetics, University of Colorado School of Medicine, Aurora, Colorado, USA Intellectual and Developmental Disabilities Research Center, University of Colorado School of Medicine, Aurora, Colorado, USA.
DOI:
https://doi.org/10.1136/jmedgenet-2015-103049
Authors:
Collins AE,
Coster RV,
Coughlin CR 2nd,
Creadon-Swindell G,
Friederich MW,
Geiger EA,
Minczuk M,
Powell CA,
Scharer GH,
Shaikh TH,
Swanson MA,
Van Hove JL,
Vanlander AV,
Yu HC
Studies:
A Prospective Database of Infants With Cholestasis
Mitochondrial disease is often suspected in cases of severe epileptic encephalopathy especially when a complex movement disorder, liver involvement and progressive developmental regression are present. Although mutations in either mitochondrial DNA or POLG are often present, other nuclear defects in mitochondrial DNA replication and protein translation have been associated with a severe epileptic encephalopathy.