|
Early Infantile Epileptic Encephalopathy 6
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A mutation in GABRB3 associated with Dravet syndrome.
|
28544625 |
2017 |
|
Early Infantile Epileptic Encephalopathy 6
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
|
26993267 |
2016 |
|
Early Infantile Epileptic Encephalopathy 6
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
|
Early Infantile Epileptic Encephalopathy 6
|
|
0.800 |
CausalMutation
|
CLINVAR |
"Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome."
|
26096185 |
2015 |
|
Early Infantile Epileptic Encephalopathy 6
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
|
23708187 |
2013 |
|
Early Infantile Epileptic Encephalopathy 6
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
|
23662938 |
2013 |
|
Early Infantile Epileptic Encephalopathy 6
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Acute encephalopathy in children with Dravet syndrome.
|
22092154 |
2012 |
|
Early Infantile Epileptic Encephalopathy 6
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.
|
21864321 |
2011 |
|
Early Infantile Epileptic Encephalopathy 6
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).
|
20729507 |
2010 |
|
Early Infantile Epileptic Encephalopathy 6
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy.
|
19563458 |
2010 |
|
Early Infantile Epileptic Encephalopathy 6
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
|
20298421 |
2010 |
|
Early Infantile Epileptic Encephalopathy 6
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
|
20522430 |
2010 |
|
Early Infantile Epileptic Encephalopathy 6
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.
|
20431604 |
2010 |
|
Early Infantile Epileptic Encephalopathy 6
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.
|
19522081 |
2009 |
|
Early Infantile Epileptic Encephalopathy 6
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The spectrum of SCN1A-related infantile epileptic encephalopathies.
|
17347258 |
2007 |
|
Early Infantile Epileptic Encephalopathy 6
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.
|
16122630 |
2005 |
|
Early Infantile Epileptic Encephalopathy 6
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.
|
15087100 |
2004 |
|
Early Infantile Epileptic Encephalopathy 6
|
|
0.800 |
GeneticVariation
|
UNIPROT |
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 |
|
Early Infantile Epileptic Encephalopathy 6
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.
|
14672992 |
2003 |
|
Early Infantile Epileptic Encephalopathy 6
|
|
0.800 |
GeneticVariation
|
UNIPROT |
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.
|
12754708 |
2003 |
|
Early Infantile Epileptic Encephalopathy 6
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.
|
12566275 |
2003 |
|
Early Infantile Epileptic Encephalopathy 6
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.
|
12821740 |
2003 |