Early Infantile Epileptic Encephalopathy 6
|
0.800 |
Biomarker
|
disease |
MGD |
Severe peri-ictal respiratory dysfunction is common in Dravet syndrome.
|
29329111 |
2018 |
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
|
27864847 |
2017 |
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A mutation in GABRB3 associated with Dravet syndrome.
|
28544625 |
2017 |
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
GeneticVariation
|
disease |
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
|
disease |
UNIPROT |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
CausalMutation
|
disease |
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 |
Biomarker
|
disease |
MGD |
Mapping genetic modifiers of survival in a mouse model of Dravet syndrome.
|
24152123 |
2014 |
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations.
|
24168886 |
2014 |
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The SCN1A gene variants and epileptic encephalopathies.
|
23884151 |
2013 |
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
|
23662938 |
2013 |
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
|
23708187 |
2013 |
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings.
|
23808377 |
2013 |
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression.
|
23086956 |
2012 |
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.
|
23195492 |
2012 |
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Pure haploinsufficiency for Dravet syndrome Na(V)1.1 (SCN1A) sodium channel truncating mutations.
|
22150645 |
2012 |
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
|
22612257 |
2012 |
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures.
|
22151702 |
2012 |
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
Biomarker
|
disease |
MGD |
Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission.
|
22914087 |
2012 |
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Acute encephalopathy in children with Dravet syndrome.
|
22092154 |
2012 |
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Early clinical features in Dravet syndrome patients with and without SCN1A mutations.
|
22071555 |
2012 |
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.
|
23195492 |
2012 |
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
|
22612257 |
2012 |
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Progressive gait deterioration in adolescents with Dravet syndrome.
|
22409937 |
2012 |
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Dravet syndrome: seizure control and gait in adults with different SCN1A mutations.
|
22780858 |
2012 |
Early Infantile Epileptic Encephalopathy 6
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
[Clinical, electroencephalographic and genomic characteristics of patients with epilepsy with febrile seizures plus].
|
21425109 |
2011 |