×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
Seizures
0.700
Biomarker
HPO
×
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
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
Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan.
25487684
2015
×
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
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
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
Seizures
0.500
CausalMutation
CLINVAR
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.
9425895
1998
×
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:
4204
Gene Symbol:
MECP2
MECP2
Seizures
0.500
Biomarker
HPO
×
Entrez Id:
627
Gene Symbol:
BDNF
BDNF
Seizures
0.500
Biomarker
HPO
×
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:
351
Gene Symbol:
APP
APP
Seizures
0.500
Biomarker
HPO
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Seizures
0.500
GeneticVariation
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
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
CausalMutation
CLINVAR
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.
23621294
2013
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Seizures
0.500
CausalMutation
CLINVAR
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Seizures
0.500
CausalMutation
CLINVAR
KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.
14534157
2003
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Seizures
0.500
GeneticVariation
CLINVAR
MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.
17089071
2007
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Seizures
0.500
Biomarker
HPO
×
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
Biomarker
HPO