Condition: EPILEPSY, PROGRESSIVE MYOCLONIC 3
rs1554397834 in
KCTD7 gene and
EPILEPSY, PROGRESSIVE MYOCLONIC 3
PMID 22693283 2012 Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.
PMID 22748208 2012 A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
PMID 22612257 2012 Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
PMID 2274208 1990 [Propofol with/without N2O versus thiopentone-isoflurane in surgery of supratentorial tumors].
PMID 27742667 2016 Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.
PMID 17455289 2007 Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.
PMID 22606975 2012 Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy.