Annotation Detail
Information
- Associated Genes
- POLG
- Associated Variants
-
POLG p.Trp748Ser (p.W748S)
(
ENST00000442287.6,
ENST00000636937.2,
ENST00000268124.11 )
POLG p.Ala467Thr (p.A467T) ( ENST00000268124.11, ENST00000636937.2, ENST00000442287.6 )
POLG p.Trp748Ser (p.W748S) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 )
POLG p.Ala467Thr (p.A467T) ( ENST00000268124.11, ENST00000442287.6, ENST00000636937.2 ) - Associated Disease
- epilepsy
- Source Database
- DisGeNET
- Description
- Treatment of epilepsy in patients with a POLG1 compound heterozygous A467T/W748S genotype is very challenging; the epilepsy may preferentially respond to sodium channel blockers.
- Pubmed
- 21515089
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.122985860592883
- Year of publication
- 2011
Drugs