|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
GeneticVariation |
CLINVAR |
Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.
|
12083760 |
2002 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
Association of severe myoclonic epilepsy of infancy (SMEI) with probable autoimmune lymphoproliferative syndrome-variant.
|
25669891 |
2014 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.
|
17054684 |
2006 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
GeneticVariation |
CLINVAR |
Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.
|
17054685 |
2006 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
PCDH19 mutation in Japanese females with epilepsy.
|
22050978 |
2012 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.
|
19589774 |
2010 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene.
|
21371021 |
2011 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
A catalog of SCN1A variants.
|
18804930 |
2009 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
GeneticVariation |
CLINVAR |
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.
|
17054684 |
2006 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
Genotype-phenotype associations in SCN1A-related epilepsies.
|
21248271 |
2011 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
Seven novel SCN1A mutations in Chinese patients with severe myoclonic epilepsy of infancy.
|
18554359 |
2008 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.
|
28708303 |
2018 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
GeneticVariation |
CLINVAR |
The spectrum of SCN1A-related infantile epileptic encephalopathies.
|
17347258 |
2007 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet.
|
25459969 |
2015 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.
|
23895530 |
2013 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.
|
29186148 |
2017 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
Pitfalls in genetic testing: the story of missed SCN1A mutations.
|
27465585 |
2016 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
GeneticVariation |
CLINVAR |
PCDH19 mutation in Japanese females with epilepsy.
|
22050978 |
2012 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.
|
16210358 |
2005 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.
|
17054685 |
2006 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.
|
12821740 |
2003 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings.
|
23808377 |
2013 |
|
SCN1A-AS1
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
|
0.100 |
CausalMutation |
CLINVAR |
Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.
|
28102150 |
2017 |