Movement Disorders
|
0.150 |
GeneticVariation
|
group |
BEFREE |
Mutations in SCN8A gene have been described in relation to infantile onset epilepsy with movement disorders and developmental delay.
|
29432985 |
2018 |
Movement Disorders
|
0.150 |
Biomarker
|
group |
BEFREE |
SCN8A can be considered as a candidate gene for isolated movement disorders without seizures.
|
29726066 |
2018 |
Movement Disorders
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Loss-of-function variants of SCN8A in intellectual disability without seizures.
|
28702509 |
2017 |
Movement Disorders
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
|
26677014 |
2016 |
Movement Disorders
|
0.150 |
CausalMutation
|
group |
CLINVAR |
SCN8A encephalopathy: Research progress and prospects.
|
27270488 |
2016 |
Movement Disorders
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach.
|
26252990 |
2016 |
Movement Disorders
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.
|
26900580 |
2016 |
Movement Disorders
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
|
26993267 |
2016 |
Movement Disorders
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy.
|
26220391 |
2015 |
Movement Disorders
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.
|
26029160 |
2015 |
Movement Disorders
|
0.150 |
CausalMutation
|
group |
CLINVAR |
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.
|
25725044 |
2015 |
Movement Disorders
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
|
25914188 |
2015 |
Movement Disorders
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation.
|
25799905 |
2015 |
Movement Disorders
|
0.150 |
CausalMutation
|
group |
CLINVAR |
SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.
|
25785782 |
2015 |
Movement Disorders
|
0.150 |
CausalMutation
|
group |
CLINVAR |
A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.
|
24874546 |
2014 |
Movement Disorders
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.
|
25239001 |
2014 |
Movement Disorders
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
|
24888894 |
2014 |
Movement Disorders
|
0.150 |
CausalMutation
|
group |
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 |
Movement Disorders
|
0.150 |
CausalMutation
|
group |
CLINVAR |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
Movement Disorders
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
|
23708187 |
2013 |
Movement Disorders
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
|
23020937 |
2012 |
Movement Disorders
|
0.150 |
CausalMutation
|
group |
CLINVAR |
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.
|
22365152 |
2012 |
Movement Disorders
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.
|
20196795 |
2010 |
Movement Disorders
|
0.150 |
Biomarker
|
group |
BEFREE |
Mutations in SCN8A are associated with cognitive deficits and neuropsychiatric illness in humans and movement disorders in mice; however, a role for SCN8A (Na(v)1.6) in epilepsy has not been investigated.
|
17881658 |
2007 |
Movement Disorders
|
0.150 |
Biomarker
|
group |
BEFREE |
Mutations in the mouse ortholog of SCN8A result in ataxia and other movement disorders.
|
16236810 |
2006 |