rs1555230924
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Loss-of-function variants of SCN8A in intellectual disability without seizures.
|
28702509 |
2017 |
rs869312966
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Loss-of-function variants of SCN8A in intellectual disability without seizures.
|
28702509 |
2017 |
rs1555230924
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach.
|
26252990 |
2016 |
rs1555230924
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
|
26677014 |
2016 |
rs1555230924
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.
|
26900580 |
2016 |
rs1555230924
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
SCN8A encephalopathy: Research progress and prospects.
|
27270488 |
2016 |
rs1555230924
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
|
26993267 |
2016 |
rs869312966
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
|
26993267 |
2016 |
rs869312966
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
SCN8A encephalopathy: Research progress and prospects.
|
27270488 |
2016 |
rs869312966
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach.
|
26252990 |
2016 |
rs869312966
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
|
26677014 |
2016 |
rs869312966
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.
|
26900580 |
2016 |
rs1555230924
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.
|
25725044 |
2015 |
rs1555230924
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
|
25914188 |
2015 |
rs1555230924
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation.
|
25799905 |
2015 |
rs1555230924
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy.
|
26220391 |
2015 |
rs1555230924
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.
|
26029160 |
2015 |
rs1555230924
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.
|
25785782 |
2015 |
rs869312966
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
|
25914188 |
2015 |
rs869312966
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation.
|
25799905 |
2015 |
rs869312966
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy.
|
26220391 |
2015 |
rs869312966
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.
|
25785782 |
2015 |
rs869312966
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.
|
26029160 |
2015 |
rs869312966
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.
|
25725044 |
2015 |
rs1555230924
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
|
24888894 |
2014 |