rs786205232
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Tremor
0.010
GeneticVariation
BEFREE
KCNA2 sequencing revealed 1 de novo mutation (CCDS_827.1: c.890G>A; p.Arg297Gln ) in a girl with EE, ataxia, and tremor .
27733563
2016
rs786205232
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Epileptic encephalopathy
0.010
GeneticVariation
BEFREE
KCNA2 sequencing revealed 1 de novo mutation (CCDS_827.1: c.890G>A ; p.Arg297Gln ) in a girl with EE , ataxia, and tremor.
27733563
2016
rs886041761
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Cerebellar Ataxia
0.010
GeneticVariation
BEFREE
Follow-up analysis of > 2,000 patients with various neurological phenotypes identified a de novo p.R294H mutation in a proband with ataxia and ID.
27543892
2016
rs886041761
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Henoch-Schoenlein Purpura
0.010
GeneticVariation
BEFREE
We identified a recurrent mutation in KCNA2 (c.881G>A, p.R294H ), encoding the voltage-gated K(+) -channel, KV 1.2, in two unrelated families with HSP , intellectual disability (ID), and ataxia.
27543892
2016
rs886041761
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Ataxia
0.010
GeneticVariation
BEFREE
Follow-up analysis of > 2,000 patients with various neurological phenotypes identified a de novo p.R294H mutation in a proband with ataxia and ID.
27543892
2016
rs886041761
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Intellectual Disability
0.010
GeneticVariation
BEFREE
Follow-up analysis of > 2,000 patients with various neurological phenotypes identified a de novo p.R294H mutation in a proband with ataxia and ID .
27543892
2016
rs786205231
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
G
0.800
CausalMutation
CLINVAR
rs786205232
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
T
0.800
CausalMutation
CLINVAR
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.
27733563
2016
rs786205232
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
T
0.800
CausalMutation
CLINVAR
Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy.
25477152
2015
rs786205232
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
T
0.800
CausalMutation
CLINVAR
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
25751627
2015
rs876657389
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
A
0.800
CausalMutation
CLINVAR
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
25751627
2015
rs876657390
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
A
0.800
CausalMutation
CLINVAR
rs1064794738
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
T
0.700
GeneticVariation
CLINVAR
rs1553181280
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
C
0.700
CausalMutation
CLINVAR
rs1553181282
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
A
0.700
GeneticVariation
CLINVAR
rs1553181301
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
T
0.700
GeneticVariation
CLINVAR
rs1553181323
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
A
0.700
GeneticVariation
CLINVAR
rs763353895
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
A
0.700
CausalMutation
CLINVAR
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
27457812
2017
rs786205232
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Movement Disorders
T
0.700
CausalMutation
CLINVAR
Effect of sensor domain mutations on the properties of voltage-gated ion channels: molecular dynamics studies of the potassium channel Kv1.2.
21044565
2010
rs786205232
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Movement Disorders
T
0.700
CausalMutation
CLINVAR
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.
27733563
2016
rs786205232
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Muscle hypotonia
T
0.700
CausalMutation
CLINVAR
Contributions of Kv1.2, Kv1.5 and Kv2.1 subunits to the native delayed rectifier K(+) current in rat mesenteric artery smooth muscle cells.
12127166
2002
rs786205232
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Movement Disorders
T
0.700
CausalMutation
CLINVAR
Voltage-sensing residues in the S2 and S4 segments of the Shaker K+ channel.
8663992
1996
rs786205232
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Movement Disorders
T
0.700
CausalMutation
CLINVAR
Localization of Kv1.1 and Kv1.2, two K channel proteins, to synaptic terminals, somata, and dendrites in the mouse brain.
8046438
1994
rs786205232
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Movement Disorders
T
0.700
CausalMutation
CLINVAR
A proton pore in a potassium channel voltage sensor reveals a focused electric field.
14765197
2004
rs786205232
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Movement Disorders
T
0.700
CausalMutation
CLINVAR
Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.
27062609
2017