Article
Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications.
Epilepsia - 1 Aug 2018
Hikmat Omar, Naess Karin, Engvall Martin, Klingenberg Claus, Rasmussen Magnhild, Tallaksen Chantal M E, Brodtkorb Eylert, Fiskerstrand Torunn, Isohanni Pirjo, Uusimaa Johanna, Darin Niklas, Rahman Shamima, Bindoff Laurence A
Abstract excerpt
OBJECTIVE: Epilepsy is common in individuals with mutations in POLG, the gene encoding the catalytic subunit of the mitochondrial DNA polymerase gamma. Early recognition and aggressive seizure management are crucial for patient survival. Disruption of the blood-brain barrier (BBB) is implicated in various neurological disorders including epilepsy. The aim of this study was to assess whether POLG-related disease...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.