×
Entrez Id:
6335
Gene Symbol:
SCN9A
SCN9A
0.570
Biomarker
disease
CTD_human
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.900
Biomarker
disease
BEFREE
(3) In contrast to DS , the clinical utility of SCN1A testing for GEFS+ remains questionable.
23586701
2013
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.900
Biomarker
disease
CLINGEN
81.25% (13/16) of SCN1A mutations were de novo and 68.8% (11/16) were novel in Dravet syndrome .
30185235
2018
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.900
GeneticVariation
disease
BEFREE
81.25% (13/16) of SCN1A mutations were de novo and 68.8% (11/16) were novel in Dravet syndrome .
30185235
2018
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.900
GeneticVariation
disease
BEFREE
Dravet syndrome (DS) is a genetically determined epileptic encephalopathy mainly caused by de novo mutations in the SCN1A gene.
19214208
2009
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.900
GeneticVariation
disease
BEFREE
Dravet syndrome (DS ) is an epileptic encephalopathy related mainly to mutations in the SCN1A gene, encoding for neuronal sodium channels.
21463281
2011
×
Entrez Id:
2566
Gene Symbol:
GABRG2
GABRG2
0.400
GeneticVariation
disease
BEFREE
Dravet syndrome is caused mainly by mutations of voltage-gated Na(+) channels (most of them targeting Na(V) 1.1) and in few cases by mutations of γ-aminobutyric acid (GABA)(A) receptor γ2 subunit.
21463283
2011
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.900
GeneticVariation
disease
BEFREE
Dravet syndrome and SCN1A gene mutation related-epilepsies: cognitive impairment and its determinants.
21504426
2011
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.900
GeneticVariation
disease
BEFREE
Dravet syndrome : patients with co-morbid SCN1A gene mutations and mitochondrial electron transport chain defects.
21906962
2012
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.900
GeneticVariation
disease
BEFREE
Dravet syndrome is associated with mutations of the gene encoding the alpha-1 subunit of the sodium channel, SCN1A , in >70% of patients.
22704920
2012
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.900
GeneticVariation
disease
BEFREE
SMEI is a channelopathy and the genetic studies have shown a mutation in the SCN1A gene in 70 to 80% of the patients, including the borderline forms.
23622210
2013
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.900
GeneticVariation
disease
BEFREE
Severe myoclonic epilepsy of infancy (SMEI, also known as Dravet syndrome ) and genetic epilepsy with febrile seizures plus (mild febrile seizures) can both arise due to mutations of SCN1A , the gene encoding alpha 1 pore-forming subunit of the Nav1.1 voltage-gated sodium channel.
23773995
2013
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.900
Biomarker
disease
CLINGEN
Dravet syndrome is an autosomal dominant epileptic encephalopathy of childhood, which is caused mainly by SCN1A and PCHD19 mutations.
23808377
2013
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.900
GeneticVariation
disease
BEFREE
Dravet syndrome is a childhood disorder associated with loss-of-function mutations in SCN1A and is characterized by frequent seizures and severe cognitive impairment, thus well illustrating the concept of epileptic encephalopathy.
24571113
2013
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.900
GeneticVariation
disease
BEFREE
Dravet syndrome due to an SCN1A mutation is twice as common in the United States as previously thought.
26438699
2015
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.900
Biomarker
disease
CLINGEN
Dravet syndrome due to an SCN1A mutation is twice as common in the United States as previously thought.
26438699
2015
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.900
GeneticVariation
disease
BEFREE
Dravet Syndrome is an intractable form of childhood epilepsy associated with deleterious mutations in SCN1A , the gene encoding neuronal sodium channel Nav1.1.
27458797
2016
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.900
GeneticVariation
disease
BEFREE
Dravet syndrome is the prototype of SCN1A -mutation associated epilepsies.
27582020
2016
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.900
Biomarker
disease
MGD
Dravet syndrome (DS ) is a severe childhood-onset epilepsy commonly due to mutations of the sodium channel gene SCN1A .
29329111
2018
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.900
GeneticVariation
disease
BEFREE
Dravet syndrome (DS ) is a severe childhood-onset epilepsy commonly due to mutations of the sodium channel gene SCN1A .
29329111
2018
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.900
AlteredExpression
disease
BEFREE
Dravet syndrome (DS ) is a disease that is primarily caused by the inactivation of the SCN1A -encoded voltage-gated sodium channel alpha subunit (Nav1.1).
30529264
2019
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.900
GeneticVariation
disease
BEFREE
Dravet syndrome (DS ) is a genetic form of severe epilepsy often associated with mutation of the SCN1A gene encoding the voltage gated sodium channel Nav1.1.
31445030
2019
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.900
GeneticVariation
disease
BEFREE
Dravet syndrome (DS ) is an early onset refractory epilepsy typically caused by de novo heterozygous variants in SCN1A encoding the α-subunit of the neuronal sodium channel Na<sub>v</sub>1.1.
31445158
2019
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.900
GeneticVariation
disease
BEFREE
SCN1A analysis by dHPLC/sequencing revealed 40 mutations in 37 SMEI /SMEB (67%) and 3 GEFS+ (11.5%) probands.
17561957
2007
×
Entrez Id:
6323
Gene Symbol:
SCN1A
SCN1A
0.900
GeneticVariation
disease
BEFREE
SCN1A missense and truncated mutations were detected significantly more often in the Dravet syndrome group than in the non-Dravet syndrome group.
18076640
2008