|
| Entrez Id: |
2775 |
| Gene Symbol: |
GNAO1 |
GNAO1
|
Movement Disorders
|
0.500 |
GeneticVariation |
CLINVAR |
|
|
|
|
| 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 |
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 |
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 |
GeneticVariation |
CLINVAR |
Dravet syndrome--from epileptic encephalopathy to channelopathy.
|
24836964 |
2014 |
|
| 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 |
GeneticVariation |
CLINVAR |
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
|
19400878 |
2009 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Movement Disorders
|
0.410 |
GeneticVariation |
CLINVAR |
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.
|
11359211 |
2001 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Movement Disorders
|
0.410 |
GeneticVariation |
CLINVAR |
Severe myoclonic epilepsy in infancy: Dravet syndrome.
|
15508915 |
2005 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Movement Disorders
|
0.410 |
GeneticVariation |
CLINVAR |
Progressive gait deterioration in adolescents with Dravet syndrome.
|
22409937 |
2012 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Movement Disorders
|
0.410 |
GeneticVariation |
CLINVAR |
The spectrum of SCN1A-related infantile epileptic encephalopathies.
|
17347258 |
2007 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Movement Disorders
|
0.410 |
GeneticVariation |
CLINVAR |
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy.
|
16430863 |
2006 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Movement Disorders
|
0.410 |
GeneticVariation |
CLINVAR |
Timing of de novo mutagenesis--a twin study of sodium-channel mutations.
|
20879882 |
2010 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Movement Disorders
|
0.410 |
GeneticVariation |
CLINVAR |
Structure and function of voltage-gated sodium channels at atomic resolution.
|
24097157 |
2014 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Movement Disorders
|
0.410 |
GeneticVariation |
CLINVAR |
Genotype-phenotype associations in SCN1A-related epilepsies.
|
21248271 |
2011 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Movement Disorders
|
0.410 |
GeneticVariation |
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 |
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
|
10742094 |
2000 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
Movement Disorders
|
0.410 |
GeneticVariation |
CLINVAR |
Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients.
|
21269283 |
2011 |
|
| Entrez Id: |
111 |
| Gene Symbol: |
ADCY5 |
ADCY5
|
Movement Disorders
|
0.170 |
GeneticVariation |
CLINVAR |
Localization of D1 and D2 dopamine receptors in brain with subtype-specific antibodies.
|
8415621 |
1993 |
|
| Entrez Id: |
111 |
| Gene Symbol: |
ADCY5 |
ADCY5
|
Movement Disorders
|
0.170 |
GeneticVariation |
CLINVAR |
ADCY5 mutations are another cause of benign hereditary chorea.
|
26085604 |
2015 |
|
| Entrez Id: |
111 |
| Gene Symbol: |
ADCY5 |
ADCY5
|
Movement Disorders
|
0.170 |
GeneticVariation |
CLINVAR |
Discrete expression of Ca2+/calmodulin-sensitive and Ca(2+)-insensitive adenylyl cyclases in the rat brain.
|
8511718 |
1993 |
|
| Entrez Id: |
111 |
| Gene Symbol: |
ADCY5 |
ADCY5
|
Movement Disorders
|
0.170 |
GeneticVariation |
CLINVAR |
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.
|
28511835 |
2017 |
|
| Entrez Id: |
111 |
| Gene Symbol: |
ADCY5 |
ADCY5
|
Movement Disorders
|
0.170 |
GeneticVariation |
CLINVAR |
Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series.
|
27052971 |
2016 |