|
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 |
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 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 |
Molecular and pathological effects of a modifier gene on deficiency of the sodium channel Scn8a (Na(v)1.6).
|
12374766 |
2002 |
|
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 |
In response: SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.
|
26235739 |
2015 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
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 |
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
|
24888894 |
2014 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
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 |
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 |
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
|
23020937 |
2012 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Recently, de novo SCN8A missense mutations have been identified as a rare dominant cause of epileptic encephalopathies (EIEE13).
|
25239001 |
2014 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
Recently, de novo SCN8A missense mutations have been identified as a rare dominant cause of epileptic encephalopathies (EIEE13).
|
25239001 |
2014 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Recently, de novo SCN8A missense mutations have been identified as a rare dominant cause of epileptic encephalopathies (EIEE13).
|
25239001 |
2014 |
|
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 |
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 |
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.
|
22365152 |
2012 |