×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
27864847
2017
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
A mutation in GABRB3 associated with Dravet syndrome.
28544625
2017
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
26993267
2016
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
25818041
2015
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
23662938
2013
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
23708187
2013
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
22612257
2012
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
Acute encephalopathy in children with Dravet syndrome.
22092154
2012
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.
23195492
2012
×
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
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
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
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
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
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
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.
19522081
2009
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
Monozygotic twins with severe myoclonic epilepsy in infancy discordant for clinical features.
18639757
2008
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
18413471
2008
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
The spectrum of SCN1A-related infantile epileptic encephalopathies.
17347258
2007
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.800
GeneticVariation
disease
UNIPROT
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
17561957
2007