×
Entrez Id: 81609
Gene Symbol: SNX27
SNX27
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
0.300
Biomarker
disease
GENOMICS_ENGLAND
Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.
23895530 2013
SCN1A-AS1
0.100
CausalMutation
disease
CLINVAR
"Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome."
26096185 2015
SCN1A-AS1
0.100
CausalMutation
disease
CLINVAR
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.
23195492 2012
SCN1A-AS1
0.100
CausalMutation
disease
CLINVAR
Parental SCN1A mutation mosaicism in familial Dravet syndrome.
19673951 2009
SCN1A-AS1
0.100
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
Timing of de novo mutagenesis--a twin study of sodium-channel mutations.
20879882 2010
SCN1A-AS1
0.100
CausalMutation
disease
CLINVAR
Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.
20431604 2010
SCN1A-AS1
0.100
CausalMutation
disease
CLINVAR
Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.
12083760 2002
SCN1A-AS1
0.100
CausalMutation
disease
CLINVAR
Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity.
15277629 2004
SCN1A-AS1
0.100
CausalMutation
disease
CLINVAR
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.
21703448 2011
SCN1A-AS1
0.100
CausalMutation
disease
CLINVAR
Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.
21864321 2011
SCN1A-AS1
0.100
CausalMutation
disease
CLINVAR
Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene.
21371021 2011
SCN1A-AS1
0.100
CausalMutation
disease
CLINVAR
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study.
16713920 2006
SCN1A-AS1
0.100
CausalMutation
disease
CLINVAR
Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort.
15508916 2005
SCN1A-AS1
0.100
CausalMutation
disease
CLINVAR
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
SCN1A-AS1
0.100
CausalMutation
disease
CLINVAR
Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.
17054685 2006
SCN1A-AS1
0.100
CausalMutation
disease
CLINVAR
[Clinical, electroencephalographic and genomic characteristics of patients with epilepsy with febrile seizures plus].
21425109 2011
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
SCN1A-AS1
0.100
CausalMutation
disease
CLINVAR
The spectrum of SCN1A-related infantile epileptic encephalopathies.
17347258 2007
SCN1A-AS1
0.100
CausalMutation
disease
CLINVAR
Early clinical features in Dravet syndrome patients with and without SCN1A mutations.
22071555 2012
SCN1A-AS1
0.100
CausalMutation
disease
CLINVAR
Demystifying vaccination-associated encephalopathy.
16713913 2006
SCN1A-AS1
0.100
CausalMutation
disease
CLINVAR
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.
19589774 2010
SCN1A-AS1
0.100
CausalMutation
disease
CLINVAR
Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures.
22151702 2012
SCN1A-AS1
0.100
CausalMutation
disease
CLINVAR
Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.
19522081 2009