Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315390
rs74315390
T 0.710 CausalMutation CLINVAR Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. 26138355

2016

dbSNP: rs74315390
rs74315390
T 0.710 CausalMutation CLINVAR Adult mice homozygous for Y284C, heretofore unexamined in animals, presented with spontaneous seizures, whereas A306T homozygotes died early. 24586341

2014

dbSNP: rs74315390
rs74315390
T 0.710 CausalMutation CLINVAR Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A. 24375629

2014

dbSNP: rs74315390
rs74315390
T 0.710 CausalMutation CLINVAR Electroconvulsive seizure thresholds and kindling acquisition rates are altered in mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions. 19453707

2009

dbSNP: rs74315390
rs74315390
T 0.710 CausalMutation CLINVAR Adult Kcnq2(A306T/+) and Kcnq3(G311V/+) heterozygous knock-in mice exhibited reduced thresholds to electrically induced seizures compared to wild-type littermate mice. 18483067

2008

dbSNP: rs74315390
rs74315390
T 0.710 CausalMutation CLINVAR KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. 14534157

2003

dbSNP: rs74315390
rs74315390
T 0.710 CausalMutation CLINVAR A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. 9425895

1998

dbSNP: rs74315390
rs74315390
T 0.710 CausalMutation CLINVAR Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy. 9872318

1998

dbSNP: rs74315390
rs74315390
T 0.710 CausalMutation CLINVAR Seizure characteristics in chromosome 20 benign familial neonatal convulsions. 8327138

1993

dbSNP: rs797044938
rs797044938
A 0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016

dbSNP: rs118192226
rs118192226
A 0.700 CausalMutation CLINVAR Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. 25982755

2015

dbSNP: rs1568940442
rs1568940442
A 0.700 GeneticVariation CLINVAR Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits. 25740509

2015

dbSNP: rs587777219
rs587777219
A 0.700 GeneticVariation CLINVAR Variable clinical expression in patients with mosaicism for KCNQ2 mutations. 25959266

2015

dbSNP: rs796052653
rs796052653
T 0.700 CausalMutation CLINVAR Variable clinical expression in patients with mosaicism for KCNQ2 mutations. 25959266

2015

dbSNP: rs1555850151
rs1555850151
GGCCCA 0.700 GeneticVariation CLINVAR Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A. 24375629

2014

dbSNP: rs118192226
rs118192226
A 0.700 CausalMutation CLINVAR Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. 23360469

2013

dbSNP: rs1568940442
rs1568940442
A 0.700 GeneticVariation CLINVAR Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187

2013

dbSNP: rs1568940442
rs1568940442
A 0.700 GeneticVariation CLINVAR Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. 23360469

2013

dbSNP: rs1568940442
rs1568940442
A 0.700 GeneticVariation CLINVAR Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. 24107868

2013

dbSNP: rs796052653
rs796052653
T 0.700 CausalMutation CLINVAR Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. 24107868

2013

dbSNP: rs796052653
rs796052653
T 0.700 CausalMutation CLINVAR Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. 23621294

2013

dbSNP: rs587777219
rs587777219
A 0.700 GeneticVariation CLINVAR Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome. 22926866

2012

dbSNP: rs1555850151
rs1555850151
GGCCCA 0.700 GeneticVariation CLINVAR A novel degradation signal derived from distal C-terminal frameshift mutations of KCNQ2 protein which cause neonatal epilepsy. 21937445

2011

dbSNP: rs118192226
rs118192226
A 0.700 CausalMutation CLINVAR The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions. 20119593

2010

dbSNP: rs1568940442
rs1568940442
A 0.700 GeneticVariation CLINVAR Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions. 17475800

2007