Ontology highlight
ABSTRACT:
SUBMITTER: Ng YS
PROVIDER: S-EPMC5839316 | biostudies-literature | 2018 Mar
REPOSITORIES: biostudies-literature
Ng Yi Shiau YS van Ruiten Henriette H Lai H Ming HM Scott Rebecca R Ramesh Venkateswaran V Horridge Karen K Taylor Robert W RW Turnbull Doug M DM Gorman Gráinne S GS McFarland Robert R Baker Mark R MR
Epilepsia open 20180111 1
Focal status epilepticus in <i>POLG</i>-related mitochondrial disease is highly refractory to pharmacological agents, including general anesthesia. We report the challenges in managing a previously healthy teenager who presented with de novo epilepsia partialis continua and metabolic stroke resulting from the homozygous p.Ala467Thr <i>POLG</i> mutation, the most common pathogenic variant identified in the Caucasian population. We applied transcranial direct current stimulation (tDCS; 2 mA; 20 mi ...[more]