Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934906
rs28934906
CUI: C0036572
Disease: Seizures
Seizures
A 0.710 GeneticVariation CLINVAR Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. 20031356

2010

dbSNP: rs28934906
rs28934906
CUI: C0036572
Disease: Seizures
Seizures
A 0.710 GeneticVariation CLINVAR Genotype-phenotype correlation in Brazillian Rett syndrome patients. 19722030

2009

dbSNP: rs28934906
rs28934906
CUI: C0036572
Disease: Seizures
Seizures
A 0.710 GeneticVariation CLINVAR Homozygosity for MECP2 gene in a girl with classical Rett syndrome. 17881312

2008

dbSNP: rs28934906
rs28934906
CUI: C0036572
Disease: Seizures
Seizures
A 0.710 GeneticVariation CLINVAR MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. 17089071

2007

dbSNP: rs28934906
rs28934906
CUI: C0036572
Disease: Seizures
Seizures
A 0.710 GeneticVariation CLINVAR Prenatal diagnosis in Rett syndrome. 12065946

2003

dbSNP: rs28934906
rs28934906
CUI: C0036572
Disease: Seizures
Seizures
A 0.710 GeneticVariation CLINVAR Chronic osteomyelitis in patients with sickle cell disease. 10944834

2000

dbSNP: rs550423482
rs550423482
CUI: C0036572
Disease: Seizures
Seizures
A 0.710 CausalMutation CLINVAR

dbSNP: rs74315390
rs74315390
CUI: C0036572
Disease: Seizures
Seizures
T 0.710 CausalMutation CLINVAR Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. 26138355

2016

dbSNP: rs74315390
rs74315390
CUI: C0036572
Disease: Seizures
Seizures
T 0.710 CausalMutation CLINVAR Adult mice homozygous for Y284C, heretofore unexamined in animals, presented with spontaneous seizures, whereas A306T homozygotes died early. 24586341

2014

dbSNP: rs74315390
rs74315390
CUI: C0036572
Disease: Seizures
Seizures
T 0.710 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

dbSNP: rs74315390
rs74315390
CUI: C0036572
Disease: Seizures
Seizures
T 0.710 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

dbSNP: rs74315390
rs74315390
CUI: C0036572
Disease: Seizures
Seizures
T 0.710 CausalMutation CLINVAR Adult Kcnq2(A306T/+) and Kcnq3(G311V/+) heterozygous knock-in mice exhibited reduced thresholds to electrically induced seizures compared to wild-type littermate mice. 18483067

2008

dbSNP: rs74315390
rs74315390
CUI: C0036572
Disease: Seizures
Seizures
T 0.710 CausalMutation CLINVAR KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. 14534157

2003

dbSNP: rs74315390
rs74315390
CUI: C0036572
Disease: Seizures
Seizures
T 0.710 CausalMutation CLINVAR A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. 9425895

1998

dbSNP: rs74315390
rs74315390
CUI: C0036572
Disease: Seizures
Seizures
T 0.710 CausalMutation CLINVAR Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy. 9872318

1998

dbSNP: rs74315390
rs74315390
CUI: C0036572
Disease: Seizures
Seizures
T 0.710 CausalMutation CLINVAR Seizure characteristics in chromosome 20 benign familial neonatal convulsions. 8327138

1993

dbSNP: rs1009298200
rs1009298200
CUI: C0036572
Disease: Seizures
Seizures
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1010184002
rs1010184002
CUI: C0036572
Disease: Seizures
Seizures
T 0.700 GeneticVariation CLINVAR

dbSNP: rs104893851
rs104893851
CUI: C0036572
Disease: Seizures
Seizures
T 0.700 CausalMutation CLINVAR

dbSNP: rs104894483
rs104894483
CUI: C0036572
Disease: Seizures
Seizures
A 0.700 CausalMutation CLINVAR Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. 11791207

2002

dbSNP: rs104894718
rs104894718
CUI: C0036572
Disease: Seizures
Seizures
G 0.700 CausalMutation CLINVAR The goal of this study was to compare mice heterozygous for Scn1b-C121W (Scn1b(+/W)) with mice heterozygous for the Scn1b-null allele (Scn1b(+/-)) to determine whether the C121W mutation results in loss-of-function in vivo We found that Scn1b(+/W) mice were more susceptible than Scn1b(+/-) and Scn1b(+/+) mice to hyperthermia-induced convulsions, a model of pediatric febrile seizures. 27277800

2016

dbSNP: rs104894718
rs104894718
CUI: C0036572
Disease: Seizures
Seizures
G 0.700 CausalMutation CLINVAR Crystal structure and molecular imaging of the Nav channel β3 subunit indicates a trimeric assembly. 24567321

2014

dbSNP: rs104894718
rs104894718
CUI: C0036572
Disease: Seizures
Seizures
G 0.700 CausalMutation CLINVAR GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. 24623842

2014

dbSNP: rs104894718
rs104894718
CUI: C0036572
Disease: Seizures
Seizures
G 0.700 CausalMutation CLINVAR Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome. 24747835

2014

dbSNP: rs104894718
rs104894718
CUI: C0036572
Disease: Seizures
Seizures
G 0.700 CausalMutation CLINVAR Presence of epilepsy-associated variants in large exome databases. 23527921

2013