Condition: LEUKOENCEPHALOPATHY WITH ATAXIA
rs201330912 in
CLCN2 gene and
LEUKOENCEPHALOPATHY WITH ATAXIA
PMID 21703448 2011 Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.
PMID 23707145 2013 Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study.
PMID 12612585 2003 Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.
PMID 25128180 2014 Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation.
PMID 25745790 2015 Secondary paroxysmal kinesigenic dyskinesia associated with CLCN2 gene mutation.