Movement Disorders
|
0.410 |
Biomarker
|
group |
HPO |
|
|
|
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 |
Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes.
|
9126059 |
1997 |
Movement Disorders
|
0.410 |
CausalMutation
|
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 |
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
|
10742094 |
2000 |
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 |
Biomarker
|
group |
CTD_human |
Paroxysmal movement disorders in severe myoclonic epilepsy in infancy.
|
12907273 |
2003 |
Movement Disorders
|
0.410 |
GeneticVariation
|
group |
CLINVAR |
SCN1A mutations and epilepsy.
|
15880351 |
2005 |
Movement Disorders
|
0.410 |
GeneticVariation
|
group |
CLINVAR |
Severe myoclonic epilepsy in infancy: Dravet syndrome.
|
15508915 |
2005 |
Movement Disorders
|
0.410 |
CausalMutation
|
group |
CLINVAR |
SCN1A mutations and epilepsy.
|
15880351 |
2005 |
Movement Disorders
|
0.410 |
CausalMutation
|
group |
CLINVAR |
Severe myoclonic epilepsy in infancy: Dravet syndrome.
|
15508915 |
2005 |
Movement Disorders
|
0.410 |
GeneticVariation
|
group |
CLINVAR |
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy.
|
16430863 |
2006 |
Movement Disorders
|
0.410 |
CausalMutation
|
group |
CLINVAR |
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy.
|
16430863 |
2006 |
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 |
Movement Disorders
|
0.410 |
GeneticVariation
|
group |
CLINVAR |
The spectrum of SCN1A-related infantile epileptic encephalopathies.
|
17347258 |
2007 |
Movement Disorders
|
0.410 |
CausalMutation
|
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 |
Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
|
18413471 |
2008 |
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 |
GeneticVariation
|
group |
CLINVAR |
Timing of de novo mutagenesis--a twin study of sodium-channel mutations.
|
20879882 |
2010 |