rs879255699
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
|
27864847 |
2017 |
rs879255699
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.
|
28923014 |
2017 |
rs879255699
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Autosomal dominant SCN8A mutation with an unusually mild phenotype.
|
27210545 |
2016 |
rs879255699
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
|
26993267 |
2016 |
rs879255699
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.
|
26900580 |
2016 |
rs879255699
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.
|
25725044 |
2015 |
rs879255699
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The phenotypic spectrum of SCN8A encephalopathy.
|
25568300 |
2015 |
rs879255699
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
The phenotypic spectrum of SCN8A encephalopathy.
|
25568300 |
2015 |
rs879255699
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.
|
25785782 |
2015 |
rs879255699
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
rs879255699
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
|
24888894 |
2014 |
rs879255699
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.
|
24874546 |
2014 |
rs879255699
|
|
|
0.800 |
GeneticVariation |
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 |
rs879255699
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.
|
25239001 |
2014 |
rs879255699
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
|
23708187 |
2013 |
rs879255699
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.
|
22365152 |
2012 |