×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
CLINVAR
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
81609
Gene Symbol:
SNX27
SNX27
0.100
CausalMutation
disease
CLINVAR
SCN1A-AS1
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
Biomarker
disease
GENOMICS_ENGLAND
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
10742094
2000
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.
11359211
2001
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
CausalMutation
disease
CLINVAR
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.
11359211
2001
SCN1A-AS1
0.100
CausalMutation
disease
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
0.800
CausalMutation
disease
CLINVAR
Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy.
11940708
2002
SCN1A-AS1
0.100
CausalMutation
disease
CLINVAR
Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy.
11940708
2002
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
CausalMutation
disease
CLINVAR
Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.
12083760
2002
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.
12083760
2002
SCN1A-AS1
0.100
CausalMutation
disease
CLINVAR
Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.
12083760
2002
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.
12566275
2003
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
CausalMutation
disease
CLINVAR
Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.
12566275
2003
SCN1A-AS1
0.100
CausalMutation
disease
CLINVAR
Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.
12566275
2003
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.
12754708
2003
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
CausalMutation
disease
CLINVAR
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.
12754708
2003
SCN1A-AS1
0.100
CausalMutation
disease
CLINVAR
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.
12754708
2003
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
CausalMutation
disease
CLINVAR
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.
12821740
2003
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.
12821740
2003
SCN1A-AS1
0.100
CausalMutation
disease
CLINVAR
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.
12821740
2003
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.
14504318
2003
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.
14672992
2003
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).
14738421
2004