×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
0.440
CausalMutation
phenotype
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
0.440
CausalMutation
phenotype
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
0.440
CausalMutation
phenotype
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
0.440
CausalMutation
phenotype
CLINVAR
Autism in siblings with autosomal dominant nocturnal frontal lobe epilepsy.
22883468
2013
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
0.440
CausalMutation
phenotype
CLINVAR
Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family.
10643924
2000
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
0.440
CausalMutation
phenotype
CLINVAR
Mutations in familial nocturnal frontal lobe epilepsy might be associated with distinct neurological phenotypes.
22036597
2012
×
Entrez Id:
1137
Gene Symbol:
CHRNA4
CHRNA4
0.440
CausalMutation
phenotype
CLINVAR
A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation.
14623738
2003
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.
25286830
2014
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts.
21138766
2011
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
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
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations.
18585914
2008
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.
18546343
2008
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.
12565911
2003
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.
24272679
2014
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations.
20513108
2010
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.
27987238
2017
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.
19813183
2010
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.
21235791
2011
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
Evidence for polymerase gamma, POLG1 variation in reduced mitochondrial DNA copy number in Parkinson's disease.
25585994
2015
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.
12210792
2002
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.
17426723
2007
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1).
21686371
2009
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.
16024923
2005
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
Novel POLG splice site mutation and optic atrophy.
21670405
2011
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
Understanding the Epilepsy in POLG Related Disease.
28837072
2017