×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
Seizures
0.700
GeneticVariation
CLINVAR
×
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
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
GeneticVariation
CLINVAR
Variable clinical expression in patients with mosaicism for KCNQ2 mutations.
25959266
2015
×
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:
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:
4204
Gene Symbol:
MECP2
MECP2
Seizures
0.500
GeneticVariation
CLINVAR
Chronic osteomyelitis in patients with sickle cell disease.
10944834
2000
×
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
GeneticVariation
CLINVAR
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.
24107868
2013
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Seizures
0.500
GeneticVariation
CLINVAR
Prenatal diagnosis in Rett syndrome.
12065946
2003
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Seizures
0.500
GeneticVariation
CLINVAR
Homozygosity for MECP2 gene in a girl with classical Rett syndrome.
17881312
2008
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Seizures
0.500
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
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Seizures
0.500
GeneticVariation
CLINVAR
Genotype-phenotype correlation in Brazillian Rett syndrome patients.
19722030
2009
×
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:
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
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
GeneticVariation
CLINVAR
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
23708187
2013
×
Entrez Id:
2670
Gene Symbol:
GFAP
GFAP
Seizures
0.460
GeneticVariation
CLINVAR
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Seizures
0.430
GeneticVariation
CLINVAR
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.
24091540
2013
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Seizures
0.430
GeneticVariation
CLINVAR
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
18546365
2008
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Seizures
0.430
GeneticVariation
CLINVAR
Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations.
19752458
2009
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Seizures
0.430
GeneticVariation
CLINVAR
R964C mutation of DNA polymerase gamma imparts increased stavudine toxicity by decreasing nucleoside analog discrimination and impairing polymerase activity.
19364868
2009
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Seizures
0.430
GeneticVariation
CLINVAR
Propofol-related infusion syndrome heralding a mitochondrial disease: case report.
23873972
2013
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Seizures
0.430
GeneticVariation
CLINVAR
POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe.
20803511
2010
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
Seizures
0.430
GeneticVariation
CLINVAR
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
16621917
2006