×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.410
GeneticVariation
group
CLINVAR
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
18930999
2009
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.410
GeneticVariation
group
CLINVAR
Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes.
9126059
1997
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.410
CausalMutation
group
CLINVAR
The spectrum of SCN1A-related infantile epileptic encephalopathies.
17347258
2007
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.410
GeneticVariation
group
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
0.410
CausalMutation
group
CLINVAR
Dravet syndrome--from epileptic encephalopathy to channelopathy.
24836964
2014
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
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
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.410
GeneticVariation
group
CLINVAR
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
17561957
2007
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.410
CausalMutation
group
CLINVAR
Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
18413471
2008
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.410
GeneticVariation
group
CLINVAR
Dravet syndrome--from epileptic encephalopathy to channelopathy.
24836964
2014
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.410
CausalMutation
group
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
0.410
GeneticVariation
group
CLINVAR
SCN1A mutations and epilepsy.
15880351
2005
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.410
GeneticVariation
group
CLINVAR
Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
18413471
2008
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.410
CausalMutation
group
CLINVAR
Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome.
22719002
2012
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.410
GeneticVariation
group
CLINVAR
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
19400878
2009
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.410
GeneticVariation
group
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
0.410
CausalMutation
group
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
0.410
CausalMutation
group
CLINVAR
Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes.
9126059
1997
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.410
GeneticVariation
group
CLINVAR
Severe myoclonic epilepsy in infancy: Dravet syndrome.
15508915
2005
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.410
Biomarker
group
HPO
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.410
CausalMutation
group
CLINVAR
Progressive gait deterioration in adolescents with Dravet syndrome.
22409937
2012
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.410
CausalMutation
group
CLINVAR
SCN1A mutations and epilepsy.
15880351
2005
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.410
Biomarker
group
CTD_human
Paroxysmal movement disorders in severe myoclonic epilepsy in infancy.
12907273
2003
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.410
CausalMutation
group
CLINVAR
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
18930999
2009
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.410
GeneticVariation
group
CLINVAR
Progressive gait deterioration in adolescents with Dravet syndrome.
22409937
2012
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.410
CausalMutation
group
CLINVAR
Genotype-phenotype associations in SCN1A-related epilepsies.
21248271
2011