×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
CausalMutation
disease
CLINVAR
Genotype-phenotype associations in SCN1A-related epilepsies.
21248271
2011
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
CausalMutation
disease
CLINVAR
Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.
21719429
2011
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.
21864321
2011
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
Genotype-phenotype associations in SCN1A-related epilepsies.
21248271
2011
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
CausalMutation
disease
CLINVAR
Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.
21864321
2011
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
CausalMutation
disease
CLINVAR
Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene.
21371021
2011
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
Biomarker
disease
GENOMICS_ENGLAND
Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy.
21555645
2011
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
CausalMutation
disease
CLINVAR
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.
21703448
2011
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
CausalMutation
disease
CLINVAR
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
20522430
2010
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.
19589774
2010
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
CausalMutation
disease
CLINVAR
Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.
20431604
2010
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).
20729507
2010
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
CausalMutation
disease
CLINVAR
Timing of de novo mutagenesis--a twin study of sodium-channel mutations.
20879882
2010
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.
20431604
2010
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
CausalMutation
disease
CLINVAR
Acute encephalopathy with a truncation mutation in the SCN1A gene: a case report.
20491869
2010
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
20522430
2010
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI).
20110217
2010
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: clinical manifestations and SCN1A mutations in Indonesian patients.
20452746
2010
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy.
19563458
2010
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
CausalMutation
disease
CLINVAR
Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Na(v) 1.1.
20550552
2010
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
CausalMutation
disease
CLINVAR
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.
19589774
2010
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
Biomarker
disease
GENOMICS_ENGLAND
Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations.
19332696
2009
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
CausalMutation
disease
CLINVAR
Parental SCN1A mutation mosaicism in familial Dravet syndrome.
19673951
2009
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.
19783390
2009
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
18930999
2009