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 |
Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes.
|
9126059 |
1997 |
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 |
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 |
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
|
17561957 |
2007 |
Movement Disorders
|
0.410 |
GeneticVariation
|
group |
CLINVAR |
Dravet syndrome--from epileptic encephalopathy to channelopathy.
|
24836964 |
2014 |
Movement Disorders
|
0.410 |
GeneticVariation
|
group |
CLINVAR |
SCN1A mutations and epilepsy.
|
15880351 |
2005 |
Movement Disorders
|
0.410 |
GeneticVariation
|
group |
CLINVAR |
Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
|
18413471 |
2008 |
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 |
GeneticVariation
|
group |
CLINVAR |
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.
|
11359211 |
2001 |
Movement Disorders
|
0.410 |
GeneticVariation
|
group |
CLINVAR |
Severe myoclonic epilepsy in infancy: Dravet syndrome.
|
15508915 |
2005 |
Movement Disorders
|
0.410 |
GeneticVariation
|
group |
CLINVAR |
Progressive gait deterioration in adolescents with Dravet syndrome.
|
22409937 |
2012 |
Movement Disorders
|
0.410 |
GeneticVariation
|
group |
CLINVAR |
The spectrum of SCN1A-related infantile epileptic encephalopathies.
|
17347258 |
2007 |
Movement Disorders
|
0.410 |
GeneticVariation
|
group |
CLINVAR |
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy.
|
16430863 |
2006 |
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 |
GeneticVariation
|
group |
CLINVAR |
Structure and function of voltage-gated sodium channels at atomic resolution.
|
24097157 |
2014 |
Movement Disorders
|
0.410 |
GeneticVariation
|
group |
CLINVAR |
Genotype-phenotype associations in SCN1A-related epilepsies.
|
21248271 |
2011 |
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 |
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
|
10742094 |
2000 |
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 |
Biomarker
|
group |
HPO |
|
|
|
Movement Disorders
|
0.410 |
Biomarker
|
group |
CTD_human |
Paroxysmal movement disorders in severe myoclonic epilepsy in infancy.
|
12907273 |
2003 |
Movement Disorders
|
0.410 |
CausalMutation
|
group |
CLINVAR |
The spectrum of SCN1A-related infantile epileptic encephalopathies.
|
17347258 |
2007 |
Movement Disorders
|
0.410 |
CausalMutation
|
group |
CLINVAR |
Dravet syndrome--from epileptic encephalopathy to channelopathy.
|
24836964 |
2014 |
Movement Disorders
|
0.410 |
CausalMutation
|
group |
CLINVAR |
Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
|
18413471 |
2008 |