|
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 |
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 |
The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy.
|
17881658 |
2007 |
|
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 |
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 |
GeneticVariation
|
disease |
UNIPROT |
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
|
23708187 |
2013 |
|
SCN8A-related epilepsy with encephalopathy
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
|
23708187 |
2013 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability.
|
24194747 |
2013 |
|
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 |
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 |
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 |
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Large-scale discovery of novel genetic causes of developmental disorders.
|
25533962 |
2015 |