Variant: rs1554086554 

    present in Gene: KCNN2
    present in Chromosome: 5
    Position on Chromosome: 114404815
    Alleles of this Variant: TAT/-

rs1554086554 in KCNN2 gene and Movement Disorders PMID 10200319 1999 An apamin-sensitive Ca2+-activated K+ current in hippocampal pyramidal neurons.

PMID 15190101 2004 Small conductance Ca2+-activated K+ channel knock-out mice reveal the identity of calcium-dependent afterhyperpolarization currents.

PMID 15194823 2004 Cerebellar ataxia and Purkinje cell dysfunction caused by Ca2+-activated K+ channel deficiency.

PMID 22072564 2012 Developmental profile of SK2 channel expression and function in CA1 neurons.

PMID 23430260 2013 Mitochondrial small conductance SK2 channels prevent glutamate-induced oxytosis and mitochondrial dysfunction.

PMID 15234350 2004 Comparative immunohistochemical distribution of three small-conductance Ca2+-activated potassium channel subunits, SK1, SK2, and SK3 in mouse brain.

PMID 21942705 2012 Small-conductance Ca2+-activated K+ channels: form and function.

PMID 15184377 2004 Overactive bladder and incontinence in the absence of the BK large conductance Ca2+-activated K+ channel.

PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.

PMID 18604572 2008 Behavioral effects of a deletion in Kcnn2, the gene encoding the SK2 subunit of small-conductance Ca2+-activated K+ channels.

PMID 19075508 2008 K(+)-channel openers suppress epileptiform activities induced by 4-aminopyridine in cultured rat hippocampal neurons.

PMID 17329434 2007 Organization and regulation of small conductance Ca2+-activated K+ channel multiprotein complexes.

PMID 21923633 2011 Targeting BK (big potassium) channels in epilepsy.

PMID 20553876 2010 Altered expression and function of small-conductance (SK) Ca(2+)-activated K+ channels in pilocarpine-treated epileptic rats.

PMID 24434522 2014 Subcellular expression and neuroprotective effects of SK channels in human dopaminergic neurons.

PMID 11181977 2001 On the cellular and network bases of epileptic seizures.

PMID 19515965 2009 Selective activation of the SK1 subtype of human small-conductance Ca2+-activated K+ channels by 4-(2-methoxyphenylcarbamoyloxymethyl)-piperidine-1-carboxylic acid tert-butyl ester (GW542573X) is dependent on serine 293 in the S5 segment.

PMID 26166566 2015 UBE3A Regulates Synaptic Plasticity and Learning and Memory by Controlling SK2 Channel Endocytosis.

PMID 25917818 2015 Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders.

PMID 15937479 2005 Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder.

PMID 27048600 2016 De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.