Variant: rs786205232 

    present in Gene: KCNA2
    present in Chromosome: 1
    Position on Chromosome: 110603893
    Alleles of this Variant: C/T

rs786205232 in KCNA2 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 PMID 27733563 2016 Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.

PMID 25751627 2015 De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.

PMID 25477152 2015 Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy.

rs786205232 in KCNA2 gene and Movement Disorders PMID 16075038 2005 The channelopathies: novel insights into molecular and genetic mechanisms of human disease.

PMID 16002581 2005 Crystal structure of a mammalian voltage-dependent Shaker family K+ channel.

PMID 17634333 2007 Seizures and reduced life span in mice lacking the potassium channel subunit Kv1.2, but hypoexcitability and enlarged Kv1 currents in auditory neurons.

PMID 1377421 1992 An essential 'set' of K+ channels conserved in flies, mice and humans.

PMID 14765197 2004 A proton pore in a potassium channel voltage sensor reveals a focused electric field.

PMID 16704338 2006 How does voltage open an ion channel?

PMID 15694325 2005 Voltage-sensing arginines in a potassium channel permeate and occlude cation-selective pores.

PMID 21044565 2010 Effect of sensor domain mutations on the properties of voltage-gated ion channels: molecular dynamics studies of the potassium channel Kv1.2.

PMID 20696761 2010 A new Kv1.2 channelopathy underlying cerebellar ataxia.

PMID 16002579 2005 Voltage sensor of Kv1.2: structural basis of electromechanical coupling.

PMID 1706481 1991 Determination of the subunit stoichiometry of a voltage-activated potassium channel.

PMID 12214225 2002 The voltage-gated potassium channels and their relatives.

PMID 11331357 2001 Histidine scanning mutagenesis of basic residues of the S4 segment of the shaker k+ channel.

PMID 12127166 2002 Contributions of Kv1.2, Kv1.5 and Kv2.1 subunits to the native delayed rectifier K(+) current in rat mesenteric artery smooth muscle cells.

PMID 9525859 1998 The structure of the potassium channel: molecular basis of K+ conduction and selectivity.

PMID 27062609 2017 Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.

PMID 8663993 1996 Contribution of the S4 segment to gating charge in the Shaker K+ channel.

PMID 28019717 2017 Reply.

PMID 8158277 1994 Contrasting subcellular localization of the Kv1.2 K+ channel subunit in different neurons of rat brain.

PMID 28032718 2017 De novo KCNA2 mutations cause hereditary spastic paraplegia.

PMID 8663992 1996 Voltage-sensing residues in the S2 and S4 segments of the Shaker K+ channel.

PMID 27543892 2016 A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.

PMID 8046438 1994 Localization of Kv1.1 and Kv1.2, two K channel proteins, to synaptic terminals, somata, and dendrites in the mouse brain.

PMID 27733563 2016 Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.

PMID 26648591 2016 Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.

PMID 27117551 2016 Severe early-onset epileptic encephalopathy due to mutations in the KCNA2 gene: Expansion of the genotypic and phenotypic spectrum.

PMID 25751627 2015 De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.

PMID 25477152 2015 Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy.

rs786205232 in KCNA2 gene and Muscle hypotonia PMID 25751627 2015 De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.

PMID 8663992 1996 Voltage-sensing residues in the S2 and S4 segments of the Shaker K+ channel.

PMID 8046438 1994 Localization of Kv1.1 and Kv1.2, two K channel proteins, to synaptic terminals, somata, and dendrites in the mouse brain.

PMID 8158277 1994 Contrasting subcellular localization of the Kv1.2 K+ channel subunit in different neurons of rat brain.

PMID 9525859 1998 The structure of the potassium channel: molecular basis of K+ conduction and selectivity.

PMID 25477152 2015 Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy.

PMID 8663993 1996 Contribution of the S4 segment to gating charge in the Shaker K+ channel.

PMID 27733563 2016 Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.

PMID 28019717 2017 Reply.

PMID 27543892 2016 A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.

PMID 27062609 2017 Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.

PMID 26648591 2016 Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.

PMID 28032718 2017 De novo KCNA2 mutations cause hereditary spastic paraplegia.

PMID 21044565 2010 Effect of sensor domain mutations on the properties of voltage-gated ion channels: molecular dynamics studies of the potassium channel Kv1.2.

PMID 20696761 2010 A new Kv1.2 channelopathy underlying cerebellar ataxia.

PMID 16002581 2005 Crystal structure of a mammalian voltage-dependent Shaker family K+ channel.

PMID 27117551 2016 Severe early-onset epileptic encephalopathy due to mutations in the KCNA2 gene: Expansion of the genotypic and phenotypic spectrum.

PMID 14765197 2004 A proton pore in a potassium channel voltage sensor reveals a focused electric field.

PMID 1706481 1991 Determination of the subunit stoichiometry of a voltage-activated potassium channel.

PMID 17634333 2007 Seizures and reduced life span in mice lacking the potassium channel subunit Kv1.2, but hypoexcitability and enlarged Kv1 currents in auditory neurons.

PMID 16704338 2006 How does voltage open an ion channel?

PMID 15694325 2005 Voltage-sensing arginines in a potassium channel permeate and occlude cation-selective pores.

PMID 1377421 1992 An essential 'set' of K+ channels conserved in flies, mice and humans.

PMID 16075038 2005 The channelopathies: novel insights into molecular and genetic mechanisms of human disease.

PMID 16002579 2005 Voltage sensor of Kv1.2: structural basis of electromechanical coupling.

PMID 12214225 2002 The voltage-gated potassium channels and their relatives.

PMID 12127166 2002 Contributions of Kv1.2, Kv1.5 and Kv2.1 subunits to the native delayed rectifier K(+) current in rat mesenteric artery smooth muscle cells.

PMID 11331357 2001 Histidine scanning mutagenesis of basic residues of the S4 segment of the shaker k+ channel.