×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
Seizures
0.700
CausalMutation
CLINVAR
Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan.
25487684
2015
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
Seizures
0.700
CausalMutation
CLINVAR
Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome.
22976442
2012
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
Seizures
0.700
CausalMutation
CLINVAR
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.
21555602
2011
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
Seizures
0.700
Biomarker
HPO
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
Seizures
0.700
GeneticVariation
CLINVAR
×
Entrez Id:
6904
Gene Symbol:
TBCD
TBCD
Seizures
0.610
Biomarker
HPO
×
Entrez Id:
2593
Gene Symbol:
GAMT
GAMT
Seizures
0.600
Biomarker
HPO
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Seizures
0.500
CausalMutation
CLINVAR
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
26138355
2016
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Seizures
0.500
CausalMutation
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
Seizures
0.500
CausalMutation
CLINVAR
Variable clinical expression in patients with mosaicism for KCNQ2 mutations.
25959266
2015
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Seizures
0.500
GeneticVariation
CLINVAR
Variable clinical expression in patients with mosaicism for KCNQ2 mutations.
25959266
2015
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Seizures
0.500
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
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Seizures
0.500
CausalMutation
CLINVAR
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.
25982755
2015
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Seizures
0.500
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
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Seizures
0.500
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
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Seizures
0.500
CausalMutation
CLINVAR
The kick-in system: a novel rapid knock-in strategy.
24586341
2014
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Seizures
0.500
CausalMutation
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
Seizures
0.500
CausalMutation
CLINVAR
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.
23621294
2013
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Seizures
0.500
CausalMutation
CLINVAR
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.
24107868
2013
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Seizures
0.500
GeneticVariation
CLINVAR
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.
24107868
2013
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Seizures
0.500
GeneticVariation
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
Seizures
0.500
GeneticVariation
CLINVAR
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
23708187
2013
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Seizures
0.500
GeneticVariation
CLINVAR
Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.
22926866
2012
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Seizures
0.500
GeneticVariation
CLINVAR
A novel degradation signal derived from distal C-terminal frameshift mutations of KCNQ2 protein which cause neonatal epilepsy.
21937445
2011
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Seizures
0.500
CausalMutation
CLINVAR
The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions.
20119593
2010