|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.
|
24874546 |
2014 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.
|
24874546 |
2014 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.
|
24874546 |
2014 |
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
|
26677014 |
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 |
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 |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.
|
22365152 |
2012 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.
|
22365152 |
2012 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.
|
22365152 |
2012 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.
|
22365152 |
2012 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.
|
24352161 |
2014 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.
|
24352161 |
2014 |
|
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 |
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 |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
|
24888894 |
2014 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
|
24888894 |
2014 |
|
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 |
Electroclinical features of epileptic encephalopathy caused by SCN8A mutation.
|
25951352 |
2015 |
|
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 |