|
Infantile Severe Myoclonic Epilepsy
|
0.900 |
Biomarker
|
disease |
BEFREE |
(3) In contrast to DS, the clinical utility of SCN1A testing for GEFS+ remains questionable.
|
23586701 |
2013 |
|
Infantile Severe Myoclonic Epilepsy
|
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 |
|
Infantile Severe Myoclonic Epilepsy
|
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 |
|
Infantile Severe Myoclonic Epilepsy
|
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 |
|
Infantile Severe Myoclonic Epilepsy
|
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 |
|
Infantile Severe Myoclonic Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Dravet syndrome and SCN1A gene mutation related-epilepsies: cognitive impairment and its determinants.
|
21504426 |
2011 |
|
Infantile Severe Myoclonic Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Dravet syndrome: patients with co-morbid SCN1A gene mutations and mitochondrial electron transport chain defects.
|
21906962 |
2012 |
|
Infantile Severe Myoclonic Epilepsy
|
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 |
|
Infantile Severe Myoclonic Epilepsy
|
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 |
|
Infantile Severe Myoclonic Epilepsy
|
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 |
|
Infantile Severe Myoclonic Epilepsy
|
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 |
|
Infantile Severe Myoclonic Epilepsy
|
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 |
|
Infantile Severe Myoclonic Epilepsy
|
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 |
|
Infantile Severe Myoclonic Epilepsy
|
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 |
|
Infantile Severe Myoclonic Epilepsy
|
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 |
|
Infantile Severe Myoclonic Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Dravet syndrome is the prototype of SCN1A-mutation associated epilepsies.
|
27582020 |
2016 |
|
Infantile Severe Myoclonic Epilepsy
|
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 |
|
Infantile Severe Myoclonic Epilepsy
|
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 |
|
Infantile Severe Myoclonic Epilepsy
|
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 |
|
Infantile Severe Myoclonic Epilepsy
|
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 |
|
Infantile Severe Myoclonic Epilepsy
|
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 |
|
Infantile Severe Myoclonic Epilepsy
|
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 |
|
Infantile Severe Myoclonic Epilepsy
|
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 |
|
Infantile Severe Myoclonic Epilepsy
|
0.900 |
Biomarker
|
disease |
BEFREE |
SCN1A is the most clinically relevant epilepsy gene and is associated with generalized epilepsy and febrile seizure plus (GEFS+) and Dravet syndrome.
|
19292758 |
2009 |
|
Infantile Severe Myoclonic Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
SCN1A mutations may need to be further explored in patients with HH syndrome without features of SMEI.
|
19563349 |
2009 |