Movement Disorders
|
0.410 |
CausalMutation
|
group |
CLINVAR |
Dravet syndrome--from epileptic encephalopathy to channelopathy.
|
24836964 |
2014 |
Movement Disorders
|
0.410 |
GeneticVariation
|
group |
BEFREE |
This case demonstrates that SCN1A mutations may cause movement disorders as an atypical phenotype and the case history of this patient may expand our understanding of the clinical spectrum of SCN1A-associated epileptic encephalopathy.[Published with video sequences].
|
24776920 |
2014 |
Movement Disorders
|
0.410 |
GeneticVariation
|
group |
CLINVAR |
Dravet syndrome--from epileptic encephalopathy to channelopathy.
|
24836964 |
2014 |
Movement Disorders
|
0.410 |
GeneticVariation
|
group |
CLINVAR |
Structure and function of voltage-gated sodium channels at atomic resolution.
|
24097157 |
2014 |
Movement Disorders
|
0.410 |
CausalMutation
|
group |
CLINVAR |
Structure and function of voltage-gated sodium channels at atomic resolution.
|
24097157 |
2014 |
Movement Disorders
|
0.410 |
CausalMutation
|
group |
CLINVAR |
Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome.
|
22719002 |
2012 |
Movement Disorders
|
0.410 |
CausalMutation
|
group |
CLINVAR |
Progressive gait deterioration in adolescents with Dravet syndrome.
|
22409937 |
2012 |
Movement Disorders
|
0.410 |
GeneticVariation
|
group |
CLINVAR |
Progressive gait deterioration in adolescents with Dravet syndrome.
|
22409937 |
2012 |
Movement Disorders
|
0.410 |
GeneticVariation
|
group |
CLINVAR |
Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome.
|
22719002 |
2012 |
Movement Disorders
|
0.410 |
GeneticVariation
|
group |
CLINVAR |
Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief.
|
21463290 |
2011 |
Movement Disorders
|
0.410 |
CausalMutation
|
group |
CLINVAR |
Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief.
|
21463290 |
2011 |
Movement Disorders
|
0.410 |
CausalMutation
|
group |
CLINVAR |
Genotype-phenotype associations in SCN1A-related epilepsies.
|
21248271 |
2011 |
Movement Disorders
|
0.410 |
GeneticVariation
|
group |
CLINVAR |
Genotype-phenotype associations in SCN1A-related epilepsies.
|
21248271 |
2011 |
Movement Disorders
|
0.410 |
CausalMutation
|
group |
CLINVAR |
Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients.
|
21269283 |
2011 |
Movement Disorders
|
0.410 |
GeneticVariation
|
group |
CLINVAR |
Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients.
|
21269283 |
2011 |
Movement Disorders
|
0.410 |
GeneticVariation
|
group |
CLINVAR |
Timing of de novo mutagenesis--a twin study of sodium-channel mutations.
|
20879882 |
2010 |
Movement Disorders
|
0.410 |
CausalMutation
|
group |
CLINVAR |
Timing of de novo mutagenesis--a twin study of sodium-channel mutations.
|
20879882 |
2010 |
Movement Disorders
|
0.410 |
GeneticVariation
|
group |
CLINVAR |
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
|
18930999 |
2009 |
Movement Disorders
|
0.410 |
GeneticVariation
|
group |
CLINVAR |
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
|
19400878 |
2009 |
Movement Disorders
|
0.410 |
CausalMutation
|
group |
CLINVAR |
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
|
18930999 |
2009 |
Movement Disorders
|
0.410 |
CausalMutation
|
group |
CLINVAR |
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
|
19400878 |
2009 |
Movement Disorders
|
0.410 |
CausalMutation
|
group |
CLINVAR |
Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
|
18413471 |
2008 |
Movement Disorders
|
0.410 |
GeneticVariation
|
group |
CLINVAR |
Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
|
18413471 |
2008 |
Movement Disorders
|
0.410 |
CausalMutation
|
group |
CLINVAR |
The spectrum of SCN1A-related infantile epileptic encephalopathies.
|
17347258 |
2007 |
Movement Disorders
|
0.410 |
GeneticVariation
|
group |
CLINVAR |
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
|
17561957 |
2007 |