×
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
GeneticVariation
CLINVAR
×
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
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Seizures
0.500
GeneticVariation
CLINVAR
Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.
20031356
2010
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Seizures
0.500
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
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Seizures
0.500
GeneticVariation
CLINVAR
Genotype-phenotype correlation in Brazillian Rett syndrome patients.
19722030
2009