Variant: rs1554397774 

    present in Gene: KCTD7
    present in Chromosome: 7
    Position on Chromosome: 66633273
    Alleles of this Variant: A/G

rs1554397774 in KCTD7 gene and Movement Disorders PMID 22638565 2012 A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome.

PMID 25060828 2014 Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.

PMID 17455289 2007 Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.

PMID 21710140 2011 Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons.

PMID 22693283 2012 Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.

PMID 22606975 2012 Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy.

PMID 22748208 2012 A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.

PMID 19084560 2009 Neuronal ceroid lipofuscinoses.

PMID 27742667 2016 Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.

PMID 15778103 2005 Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects.