×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.410
CausalMutation
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
SCN1A mutations and epilepsy.
15880351
2005
×
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
GeneticVariation
group
CLINVAR
Severe myoclonic epilepsy in infancy: Dravet syndrome.
15508915
2005
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.410
CausalMutation
group
CLINVAR
Severe myoclonic epilepsy in infancy: Dravet syndrome.
15508915
2005
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.410
GeneticVariation
group
CLINVAR
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy.
16430863
2006
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.410
CausalMutation
group
CLINVAR
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy.
16430863
2006
×
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
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
Structure and function of voltage-gated sodium channels at atomic resolution.
24097157
2014
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.410
CausalMutation
group
CLINVAR
Structure and function of voltage-gated sodium channels at atomic resolution.
24097157
2014
×
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
The spectrum of SCN1A-related infantile epileptic encephalopathies.
17347258
2007
×
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
Timing of de novo mutagenesis--a twin study of sodium-channel mutations.
20879882
2010
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.410
CausalMutation
group
CLINVAR
Timing of de novo mutagenesis--a twin study of sodium-channel mutations.
20879882
2010