Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C0036572
Disease: Seizures
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: 4204
Gene Symbol: MECP2
MECP2
CUI: C0036572
Disease: Seizures
Seizures 		0.500 GeneticVariation CLINVAR Homozygosity for MECP2 gene in a girl with classical Rett syndrome. 17881312

2008
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0036572
Disease: Seizures
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
CUI: C0036572
Disease: Seizures
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
CUI: C0036572
Disease: Seizures
Seizures 		0.500 CausalMutation CLINVAR Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction. 14985406

2004
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C0036572
Disease: Seizures
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
CUI: C0036572
Disease: Seizures
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
CUI: C0036572
Disease: Seizures
Seizures 		0.500 GeneticVariation CLINVAR Prenatal diagnosis in Rett syndrome. 12065946

2003
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0036572
Disease: Seizures
Seizures 		0.500 GeneticVariation CLINVAR Chronic osteomyelitis in patients with sickle cell disease. 10944834

2000
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C0036572
Disease: Seizures
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
CUI: C0036572
Disease: Seizures
Seizures 		0.500 CausalMutation CLINVAR Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy. 9872318

1998
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures 		0.500 CausalMutation CLINVAR Seizure characteristics in chromosome 20 benign familial neonatal convulsions. 8327138

1993
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures 		0.500 CausalMutation CLINVAR Familial neonatal and infantile seizures: an autosomal-dominant disorder. 6476007

1984
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0036572
Disease: Seizures
Seizures 		0.500 CausalMutation CLINVAR

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0036572
Disease: Seizures
Seizures 		0.500 CausalMutation CLINVAR

Entrez Id: 2670
Gene Symbol: GFAP
GFAP
CUI: C0036572
Disease: Seizures
Seizures 		0.460 GeneticVariation CLINVAR

Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4
CUI: C0036572
Disease: Seizures
Seizures 		0.440 CausalMutation CLINVAR Autism in siblings with autosomal dominant nocturnal frontal lobe epilepsy. 22883468

2013
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4
CUI: C0036572
Disease: Seizures
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
CUI: C0036572
Disease: Seizures
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
CUI: C0036572
Disease: Seizures
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
CUI: C0036572
Disease: Seizures
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
CUI: C0036572
Disease: Seizures
Seizures 		0.440 CausalMutation CLINVAR A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. 14623738

2003
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4
CUI: C0036572
Disease: Seizures
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
CUI: C0036572
Disease: Seizures
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
CUI: C0036572
Disease: Seizures
Seizures 		0.440 CausalMutation CLINVAR A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. 10563623

1999