|
SCN1A-AS1
|
Early Infantile Epileptic Encephalopathy 6
|
0.100 |
CausalMutation |
CLINVAR |
"Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome."
|
26096185 |
2015 |
|
SCN1A-AS1
|
Early Infantile Epileptic Encephalopathy 6
|
0.100 |
CausalMutation |
CLINVAR |
Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations.
|
24168886 |
2014 |
|
SCN1A-AS1
|
Early Infantile Epileptic Encephalopathy 6
|
0.100 |
CausalMutation |
CLINVAR |
Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings.
|
23808377 |
2013 |
|
SCN1A-AS1
|
Early Infantile Epileptic Encephalopathy 6
|
0.100 |
CausalMutation |
CLINVAR |
The SCN1A gene variants and epileptic encephalopathies.
|
23884151 |
2013 |
|
SCN1A-AS1
|
Early Infantile Epileptic Encephalopathy 6
|
0.100 |
CausalMutation |
CLINVAR |
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.
|
23195492 |
2012 |
|
SCN1A-AS1
|
Early Infantile Epileptic Encephalopathy 6
|
0.100 |
CausalMutation |
CLINVAR |
Early clinical features in Dravet syndrome patients with and without SCN1A mutations.
|
22071555 |
2012 |
|
SCN1A-AS1
|
Early Infantile Epileptic Encephalopathy 6
|
0.100 |
CausalMutation |
CLINVAR |
Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures.
|
22151702 |
2012 |
|
SCN1A-AS1
|
Early Infantile Epileptic Encephalopathy 6
|
0.100 |
CausalMutation |
CLINVAR |
Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression.
|
23086956 |
2012 |
|
SCN1A-AS1
|
Early Infantile Epileptic Encephalopathy 6
|
0.100 |
CausalMutation |
CLINVAR |
Progressive gait deterioration in adolescents with Dravet syndrome.
|
22409937 |
2012 |
|
SCN1A-AS1
|
Early Infantile Epileptic Encephalopathy 6
|
0.100 |
CausalMutation |
CLINVAR |
Dravet syndrome: seizure control and gait in adults with different SCN1A mutations.
|
22780858 |
2012 |
|
SCN1A-AS1
|
Early Infantile Epileptic Encephalopathy 6
|
0.100 |
CausalMutation |
CLINVAR |
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
|
22612257 |
2012 |
|
SCN1A-AS1
|
Early Infantile Epileptic Encephalopathy 6
|
0.100 |
CausalMutation |
CLINVAR |
Pure haploinsufficiency for Dravet syndrome Na(V)1.1 (SCN1A) sodium channel truncating mutations.
|
22150645 |
2012 |
|
SCN1A-AS1
|
Early Infantile Epileptic Encephalopathy 6
|
0.100 |
CausalMutation |
CLINVAR |
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.
|
21703448 |
2011 |
|
SCN1A-AS1
|
Early Infantile Epileptic Encephalopathy 6
|
0.100 |
CausalMutation |
CLINVAR |
Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.
|
21864321 |
2011 |
|
SCN1A-AS1
|
Early Infantile Epileptic Encephalopathy 6
|
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
|
Early Infantile Epileptic Encephalopathy 6
|
0.100 |
CausalMutation |
CLINVAR |
[Clinical, electroencephalographic and genomic characteristics of patients with epilepsy with febrile seizures plus].
|
21425109 |
2011 |
|
SCN1A-AS1
|
Early Infantile Epileptic Encephalopathy 6
|
0.100 |
CausalMutation |
CLINVAR |
Genotype-phenotype associations in SCN1A-related epilepsies.
|
21248271 |
2011 |
|
SCN1A-AS1
|
Early Infantile Epileptic Encephalopathy 6
|
0.100 |
CausalMutation |
CLINVAR |
Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.
|
21719429 |
2011 |
|
SCN1A-AS1
|
Early Infantile Epileptic Encephalopathy 6
|
0.100 |
CausalMutation |
CLINVAR |
Timing of de novo mutagenesis--a twin study of sodium-channel mutations.
|
20879882 |
2010 |
|
SCN1A-AS1
|
Early Infantile Epileptic Encephalopathy 6
|
0.100 |
CausalMutation |
CLINVAR |
Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.
|
20431604 |
2010 |
|
SCN1A-AS1
|
Early Infantile Epileptic Encephalopathy 6
|
0.100 |
CausalMutation |
CLINVAR |
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.
|
19589774 |
2010 |
|
SCN1A-AS1
|
Early Infantile Epileptic Encephalopathy 6
|
0.100 |
CausalMutation |
CLINVAR |
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
|
20522430 |
2010 |
|
SCN1A-AS1
|
Early Infantile Epileptic Encephalopathy 6
|
0.100 |
CausalMutation |
CLINVAR |
Acute encephalopathy with a truncation mutation in the SCN1A gene: a case report.
|
20491869 |
2010 |
|
SCN1A-AS1
|
Early Infantile Epileptic Encephalopathy 6
|
0.100 |
CausalMutation |
CLINVAR |
Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Na(v) 1.1.
|
20550552 |
2010 |
|
SCN1A-AS1
|
Early Infantile Epileptic Encephalopathy 6
|
0.100 |
CausalMutation |
CLINVAR |
Parental SCN1A mutation mosaicism in familial Dravet syndrome.
|
19673951 |
2009 |