×
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
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
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:
3785
Gene Symbol:
KCNQ2
KCNQ2
Seizures
0.500
CausalMutation
CLINVAR
Familial neonatal and infantile seizures: an autosomal-dominant disorder.
6476007
1984
×
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
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
The kick-in system: a novel rapid knock-in strategy.
24586341
2014
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Seizures
0.500
CausalMutation
CLINVAR
Seizure characteristics in chromosome 20 benign familial neonatal convulsions.
8327138
1993
×
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
CausalMutation
CLINVAR
Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy.
9872318
1998
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
Seizures
0.500
CausalMutation
CLINVAR
×
Entrez Id:
2670
Gene Symbol:
GFAP
GFAP
Seizures
0.460
GeneticVariation
CLINVAR
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
Seizures
0.440
CausalMutation
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
Seizures
0.440
CausalMutation
CLINVAR
A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy.
10563623
1999
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
Seizures
0.440
CausalMutation
CLINVAR
Mutation (Ser284Leu) of neuronal nicotinic acetylcholine receptor alpha 4 subunit associated with frontal lobe epilepsy causes faster desensitization of the rat receptor expressed in oocytes.
11904236
2002
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
Seizures
0.440
CausalMutation
CLINVAR
Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation.
21753767
2011
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
Seizures
0.440
CausalMutation
CLINVAR
Rats harboring S284L Chrna4 mutation show attenuation of synaptic and extrasynaptic GABAergic transmission and exhibit the nocturnal frontal lobe epilepsy phenotype.
19020039
2008
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
Seizures
0.440
CausalMutation
CLINVAR
Autism in siblings with autosomal dominant nocturnal frontal lobe epilepsy.
22883468
2013
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
Seizures
0.440
CausalMutation
CLINVAR
Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family.
10643924
2000
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
Seizures
0.440
CausalMutation
CLINVAR
Mutations in familial nocturnal frontal lobe epilepsy might be associated with distinct neurological phenotypes.
22036597
2012
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
Seizures
0.440
CausalMutation
CLINVAR
A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation.
14623738
2003