The spectrum of epilepsy caused by POLG mutations

Acta Neurologica Belgica

Volumn 116, Issue 1, 2016, Pages 17-25

  Janssen, Wouter ^a   Quaegebeur, Annelies ^a   Van Goethem, Gert ^b,c,d,e   Ann, Löfgren ^c,d   Smets, Katrien ^b,c,d,e   Vandenberghe, Rik ^a   Van Paesschen, Wim ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d UNIVERSITY OF ANTWERP   (Belgium)

^e ANTWERP UNIVERSITY HOSPITAL   (Belgium)

Author keywords

Mitochondrial disease; POLG; Status epilepticus; Valproate

Indexed keywords

FLUORODEOXYGLUCOSE F 18; VALPROIC ACID; DNA DIRECTED DNA POLYMERASE; POLG PROTEIN, HUMAN;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; ATAXIA; CASE REPORT; CONSCIOUSNESS LEVEL; ELECTROENCEPHALOGRAPHY; EPILEPSY; EPILEPTIC STATE; EVALUATION AND FOLLOW UP; FEMALE; GENE MUTATION; HUMAN; LIVER TOXICITY; MEDICAL RECORD; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYNEUROPATHY; POSITRON EMISSION TOMOGRAPHY; REFRACTORY OCCIPITAL LOBE EPILEPSY; SEIZURE; SEQUENCE ANALYSIS; YOUNG ADULT; CHILD; DIAGNOSTIC IMAGING; DNA MUTATIONAL ANALYSIS; GENETICS; MALE; MUTATION; PATHOPHYSIOLOGY;

ADOLESCENT; ADULT; CHILD; DNA MUTATIONAL ANALYSIS; DNA-DIRECTED DNA POLYMERASE; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; FLUORODEOXYGLUCOSE F18; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; POSITRON-EMISSION TOMOGRAPHY; YOUNG ADULT;

EID: 84958751202     PISSN: 03009009     EISSN: 22402993     Source Type: Journal    
DOI: 10.1007/s13760-015-0499-8     Document Type: Article

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