|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
|
27864847 |
2017 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.
|
28923014 |
2017 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
|
26677014 |
2016 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
Topics discussed at this meeting included (1) comparison between mutations of SCN8A and the SCN1A mutations in Dravet syndrome, (2) biophysical properties of the Nav 1.6 channel, (3) electrophysiologic effects of patient mutations on channel properties, (4) cell and animal models of SCN8A encephalopathy, (5) drug screening strategies, (6) the phenotypic spectrum of SCN8A encephalopathy, and (7) efforts to develop a bioregistry.
|
27270488 |
2016 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
|
26677014 |
2016 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.
|
26900580 |
2016 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
|
26993267 |
2016 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Erratum to: Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach.
|
26297079 |
2016 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Autosomal dominant SCN8A mutation with an unusually mild phenotype.
|
27210545 |
2016 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.
|
25046240 |
2015 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
In response: SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.
|
26235739 |
2015 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Electroclinical features of epileptic encephalopathy caused by SCN8A mutation.
|
25951352 |
2015 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.
|
25785782 |
2015 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
The phenotypic spectrum of SCN8A encephalopathy.
|
25568300 |
2015 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Large-scale discovery of novel genetic causes of developmental disorders.
|
25533962 |
2015 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
The phenotypic spectrum of SCN8A encephalopathy.
|
25568300 |
2015 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.
|
25785782 |
2015 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
|
25914188 |
2015 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.
|
25725044 |
2015 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.
|
25725044 |
2015 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.
|
26235738 |
2015 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation.
|
25799905 |
2015 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
|
24888894 |
2014 |