×
Entrez Id:
2775
Gene Symbol:
GNAO1
GNAO1
Movement Disorders
0.500
CausalMutation
CLINVAR
GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.
28357411
2017
×
Entrez Id:
2775
Gene Symbol:
GNAO1
GNAO1
Movement Disorders
0.500
CausalMutation
CLINVAR
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.
25966631
2016
×
Entrez Id:
2775
Gene Symbol:
GNAO1
GNAO1
Movement Disorders
0.500
CausalMutation
CLINVAR
The authors report 2 cases of brothers with a severe movement disorder and hypotonia without epilepsy who have been confirmed by whole exome sequencing to have a novel mutation in GNAO1 .
26060304
2016
×
Entrez Id:
2775
Gene Symbol:
GNAO1
GNAO1
Movement Disorders
0.500
CausalMutation
CLINVAR
G alpha(o) is necessary for muscarinic regulation of Ca2+ channels in mouse heart.
9050846
1997
×
Entrez Id:
2775
Gene Symbol:
GNAO1
GNAO1
Movement Disorders
0.500
CausalMutation
CLINVAR
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
25590979
2015
×
Entrez Id:
2775
Gene Symbol:
GNAO1
GNAO1
Movement Disorders
0.500
CausalMutation
CLINVAR
De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.
23993195
2013
×
Entrez Id:
2775
Gene Symbol:
GNAO1
GNAO1
Movement Disorders
0.500
CausalMutation
CLINVAR
Patients with GNAO1 mutations can present with a severe, progressive movement disorder in the absence of epilepsy.
27068059
2016
×
Entrez Id:
2775
Gene Symbol:
GNAO1
GNAO1
Movement Disorders
0.500
CausalMutation
CLINVAR
Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations.
28747448
2017
×
Entrez Id:
2775
Gene Symbol:
GNAO1
GNAO1
Movement Disorders
0.500
CausalMutation
CLINVAR
Augmented glucose-induced insulin release in mice lacking G(o2), but not G(o1) or G(i) proteins.
21220323
2011
×
Entrez Id:
2775
Gene Symbol:
GNAO1
GNAO1
Movement Disorders
0.500
CausalMutation
CLINVAR
Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature.
28503590
2019
×
Entrez Id:
2775
Gene Symbol:
GNAO1
GNAO1
Movement Disorders
0.500
GeneticVariation
CLINVAR
×
Entrez Id:
2775
Gene Symbol:
GNAO1
GNAO1
Movement Disorders
0.500
CausalMutation
CLINVAR
Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy.
26485252
2015
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
Movement Disorders
0.410
GeneticVariation
CLINVAR
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
18930999
2009
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
Movement Disorders
0.410
GeneticVariation
CLINVAR
Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes.
9126059
1997
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
Movement Disorders
0.410
CausalMutation
CLINVAR
The spectrum of SCN1A-related infantile epileptic encephalopathies.
17347258
2007
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
Movement Disorders
0.410
GeneticVariation
CLINVAR
Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief.
21463290
2011
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
Movement Disorders
0.410
CausalMutation
CLINVAR
Dravet syndrome--from epileptic encephalopathy to channelopathy.
24836964
2014
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
Movement Disorders
0.410
GeneticVariation
CLINVAR
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
17561957
2007
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
Movement Disorders
0.410
CausalMutation
CLINVAR
Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
18413471
2008
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
Movement Disorders
0.410
GeneticVariation
CLINVAR
Dravet syndrome--from epileptic encephalopathy to channelopathy.
24836964
2014
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
Movement Disorders
0.410
CausalMutation
CLINVAR
Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief.
21463290
2011
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
Movement Disorders
0.410
GeneticVariation
CLINVAR
SCN1A mutations and epilepsy.
15880351
2005
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
Movement Disorders
0.410
GeneticVariation
CLINVAR
Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
18413471
2008
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
Movement Disorders
0.410
CausalMutation
CLINVAR
Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome.
22719002
2012
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
Movement Disorders
0.410
GeneticVariation
CLINVAR
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
19400878
2009