Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Loss-of-function variants of SCN8A in intellectual disability without seizures.
|
28702509 |
2017 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach.
|
26252990 |
2016 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.
|
26900580 |
2016 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
|
26993267 |
2016 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
SCN8A encephalopathy: Research progress and prospects.
|
27270488 |
2016 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
|
26677014 |
2016 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.
|
25725044 |
2015 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.
|
25785782 |
2015 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy.
|
26220391 |
2015 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation.
|
25799905 |
2015 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
|
25914188 |
2015 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.
|
26029160 |
2015 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.
|
24874546 |
2014 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.
|
25239001 |
2014 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
|
24888894 |
2014 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
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 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
|
23708187 |
2013 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
|
23020937 |
2012 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.
|
22365152 |
2012 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.
|
20196795 |
2010 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation.
|
16236810 |
2006 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Developmental and regional expression of sodium channel isoform NaCh6 in the rat central nervous system.
|
10745221 |
2000 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A.
|
9828131 |
1998 |
Muscle hypotonia
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells.
|
9295353 |
1997 |