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 |
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 |
CausalMutation
|
group |
CLINVAR |
The spectrum of SCN1A-related infantile epileptic encephalopathies.
|
17347258 |
2007 |
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--from epileptic encephalopathy to channelopathy.
|
24836964 |
2014 |
Movement Disorders
|
0.410 |
GeneticVariation
|
group |
CLINVAR |
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
|
17561957 |
2007 |
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 |
Dravet syndrome--from epileptic encephalopathy to channelopathy.
|
24836964 |
2014 |
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 |
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 |
CausalMutation
|
group |
CLINVAR |
Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome.
|
22719002 |
2012 |
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 |
CausalMutation
|
group |
CLINVAR |
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.
|
11359211 |
2001 |
Movement Disorders
|
0.410 |
CausalMutation
|
group |
CLINVAR |
Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes.
|
9126059 |
1997 |
Movement Disorders
|
0.410 |
GeneticVariation
|
group |
CLINVAR |
Severe myoclonic epilepsy in infancy: Dravet syndrome.
|
15508915 |
2005 |
Movement Disorders
|
0.410 |
CausalMutation
|
group |
CLINVAR |
Progressive gait deterioration in adolescents with Dravet syndrome.
|
22409937 |
2012 |
Movement Disorders
|
0.410 |
CausalMutation
|
group |
CLINVAR |
SCN1A mutations and epilepsy.
|
15880351 |
2005 |
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 |
GeneticVariation
|
group |
CLINVAR |
Progressive gait deterioration in adolescents with Dravet syndrome.
|
22409937 |
2012 |
Movement Disorders
|
0.410 |
CausalMutation
|
group |
CLINVAR |
Genotype-phenotype associations in SCN1A-related epilepsies.
|
21248271 |
2011 |
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 |