×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
0.700
CausalMutation
phenotype
CLINVAR
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.
21555602
2011
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
0.700
CausalMutation
phenotype
CLINVAR
Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome.
22976442
2012
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
0.700
CausalMutation
phenotype
CLINVAR
Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan.
25487684
2015
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
0.500
CausalMutation
phenotype
CLINVAR
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
23360469
2013
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
0.500
CausalMutation
phenotype
CLINVAR
Mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions show seizures and neuronal plasticity without synaptic reorganization.
18483067
2008
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
0.500
CausalMutation
phenotype
CLINVAR
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.
9425895
1998
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
0.500
CausalMutation
phenotype
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
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
0.500
CausalMutation
phenotype
CLINVAR
Variable clinical expression in patients with mosaicism for KCNQ2 mutations.
25959266
2015
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
0.500
CausalMutation
phenotype
CLINVAR
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.
23621294
2013
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.500
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
0.500
CausalMutation
phenotype
CLINVAR
KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.
14534157
2003
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
0.500
CausalMutation
phenotype
CLINVAR
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.
24107868
2013
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
0.500
CausalMutation
phenotype
CLINVAR
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
26138355
2016
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
0.500
CausalMutation
phenotype
CLINVAR
The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions.
20119593
2010
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
0.500
CausalMutation
phenotype
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
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
0.500
CausalMutation
phenotype
CLINVAR
Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.
14985406
2004
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
0.500
CausalMutation
phenotype
CLINVAR
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.
25982755
2015
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
0.500
CausalMutation
phenotype
CLINVAR
Familial neonatal and infantile seizures: an autosomal-dominant disorder.
6476007
1984
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
0.500
CausalMutation
phenotype
CLINVAR
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
26795593
2016
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
0.500
CausalMutation
phenotype
CLINVAR
The kick-in system: a novel rapid knock-in strategy.
24586341
2014
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
0.500
CausalMutation
phenotype
CLINVAR
Seizure characteristics in chromosome 20 benign familial neonatal convulsions.
8327138
1993
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
0.500
CausalMutation
phenotype
CLINVAR
Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy.
9872318
1998
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
0.500
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
0.440
CausalMutation
phenotype
CLINVAR
Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy.
12887446
2003
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
0.440
CausalMutation
phenotype
CLINVAR
A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy.
10563623
1999