rs74315390
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
|
26138355 |
2016 |
rs74315390
|
|
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
|
|
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 |
rs28934906
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.
|
20031356 |
2010 |
rs28934906
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Genotype-phenotype correlation in Brazillian Rett syndrome patients.
|
19722030 |
2009 |
rs74315390
|
|
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 |
rs28934906
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Homozygosity for MECP2 gene in a girl with classical Rett syndrome.
|
17881312 |
2008 |
rs74315390
|
|
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 |
rs28934906
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.
|
17089071 |
2007 |
rs28934906
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Prenatal diagnosis in Rett syndrome.
|
12065946 |
2003 |
rs74315390
|
|
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 |
rs28934906
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Chronic osteomyelitis in patients with sickle cell disease.
|
10944834 |
2000 |
rs74315390
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy.
|
9872318 |
1998 |
rs74315390
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.
|
9425895 |
1998 |
rs74315390
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Seizure characteristics in chromosome 20 benign familial neonatal convulsions.
|
8327138 |
1993 |
rs550423482
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs141970897
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.
|
31448845 |
2020 |
rs762425351
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.
|
31448845 |
2020 |
rs113994097
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations.
|
29474836 |
2019 |
rs1334099693
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
|
30661772 |
2019 |
rs1562846694
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
|
31134736 |
2019 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
|
28771251 |
2018 |
rs113994095
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease.
|
29588995 |
2018 |
rs1556424691
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype.
|
30236074 |
2018 |
rs1556424691
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
CO2-sensitive tRNA modification associated with human mitochondrial disease.
|
29760464 |
2018 |