×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.420
Biomarker
disease
CLINGEN
Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.
28794249
2017
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.420
GeneticVariation
disease
CLINVAR
Clinical implications of SCN1A missense and truncation variants in a large Japanese cohort with Dravet syndrome.
28012175
2017
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.420
CausalMutation
disease
CLINVAR
Audit of use of stiripentol in adults with Dravet syndrome.
27231140
2017
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.420
CausalMutation
disease
CLINVAR
SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome.
28079314
2017
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.420
CausalMutation
disease
CLINVAR
Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.
27781031
2016
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.420
CausalMutation
disease
CLINVAR
Pitfalls in genetic testing: the story of missed SCN1A mutations.
27465585
2016
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.420
CausalMutation
disease
CLINVAR
Lamotrigine can be beneficial in patients with Dravet syndrome.
25243660
2015
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.420
CausalMutation
disease
CLINVAR
UniProt: a hub for protein information.
25348405
2015
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.420
CausalMutation
disease
CLINVAR
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
25818041
2015
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.420
GeneticVariation
disease
CLINVAR
UniProt: a hub for protein information.
25348405
2015
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.420
CausalMutation
disease
CLINVAR
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
25401298
2015
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.420
GeneticVariation
disease
BEFREE
Recently, PCDH19-related EIEE turned out to be more frequent than initially thought, contributing to around 16% of cases (25% in female groups) in the SCN1A -negative DS-like patients.
25204757
2015
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.420
CausalMutation
disease
CLINVAR
"Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome."
26096185
2015
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.420
CausalMutation
disease
CLINVAR
Long-term course of Dravet syndrome: a study from an epilepsy center in Japan.
24502503
2014
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.420
CausalMutation
disease
CLINVAR
Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study.
23762420
2013
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.420
CausalMutation
disease
CLINVAR
Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism.
23821540
2013
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.420
CausalMutation
disease
CLINVAR
Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.
23895530
2013
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.420
CausalMutation
disease
CLINVAR
De novo mutations in epileptic encephalopathies.
23934111
2013
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.420
GeneticVariation
disease
CLINVAR
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
23708187
2013
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.420
CausalMutation
disease
CLINVAR
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.
23195492
2012
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.420
CausalMutation
disease
CLINVAR
Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.
22848613
2012
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.420
GeneticVariation
disease
CLINVAR
Dravet syndrome: seizure control and gait in adults with different SCN1A mutations.
22780858
2012
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.420
CausalMutation
disease
CLINVAR
Dravet syndrome: seizure control and gait in adults with different SCN1A mutations.
22780858
2012
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.420
CausalMutation
disease
CLINVAR
SCN1A mutational analysis in Korean patients with Dravet syndrome.
21868258
2011
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.420
CausalMutation
disease
CLINVAR
Genotype-phenotype associations in SCN1A-related epilepsies.
21248271
2011