rs28934906
|
|
Seizures
|
A |
0.710 |
GeneticVariation
|
CLINVAR |
Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.
|
20031356 |
2010 |
rs28934906
|
|
Seizures
|
A |
0.710 |
GeneticVariation
|
CLINVAR |
Genotype-phenotype correlation in Brazillian Rett syndrome patients.
|
19722030 |
2009 |
rs28934906
|
|
Seizures
|
A |
0.710 |
GeneticVariation
|
CLINVAR |
Homozygosity for MECP2 gene in a girl with classical Rett syndrome.
|
17881312 |
2008 |
rs28934906
|
|
Seizures
|
A |
0.710 |
GeneticVariation
|
CLINVAR |
MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.
|
17089071 |
2007 |
rs28934906
|
|
Seizures
|
A |
0.710 |
GeneticVariation
|
CLINVAR |
Prenatal diagnosis in Rett syndrome.
|
12065946 |
2003 |
rs28934906
|
|
Seizures
|
A |
0.710 |
GeneticVariation
|
CLINVAR |
Chronic osteomyelitis in patients with sickle cell disease.
|
10944834 |
2000 |
rs550423482
|
|
Seizures
|
A |
0.710 |
CausalMutation
|
CLINVAR |
|
|
|
rs74315390
|
|
Seizures
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
|
26138355 |
2016 |
rs74315390
|
|
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 |
rs74315390
|
|
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 |
rs74315390
|
|
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 |
rs74315390
|
|
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 |
rs74315390
|
|
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 |
rs74315390
|
|
Seizures
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy.
|
9872318 |
1998 |
rs74315390
|
|
Seizures
|
T |
0.710 |
CausalMutation
|
CLINVAR |
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.
|
9425895 |
1998 |
rs74315390
|
|
Seizures
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Seizure characteristics in chromosome 20 benign familial neonatal convulsions.
|
8327138 |
1993 |
rs1009298200
|
|
Seizures
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1010184002
|
|
Seizures
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs104893851
|
|
Seizures
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs104894483
|
|
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 |
rs104894718
|
|
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 |
rs104894718
|
|
Seizures
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome.
|
24747835 |
2014 |
rs104894718
|
|
Seizures
|
G |
0.700 |
CausalMutation
|
CLINVAR |
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
|
24623842 |
2014 |
rs104894718
|
|
Seizures
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Crystal structure and molecular imaging of the Nav channel β3 subunit indicates a trimeric assembly.
|
24567321 |
2014 |
rs104894718
|
|
Seizures
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Functional modulation of voltage-dependent sodium channel expression by wild type and mutated C121W-β1 subunit.
|
23584539 |
2013 |