|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.
|
27781031 |
2016 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.
|
15048894 |
2004 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.
|
19786696 |
2009 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Genomic diagnosis for children with intellectual disability and/or developmental delay.
|
28554332 |
2017 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.
|
23935176 |
2013 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
|
28379373 |
2017 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.
|
26648591 |
2016 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.
|
23935176 |
2013 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine.
|
27867041 |
2017 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
De novo R853Q mutation of SCN2A gene and West syndrome.
|
25772804 |
2015 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
|
28379373 |
2017 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort.
|
29215089 |
2018 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
|
26993267 |
2016 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.
|
29186148 |
2017 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
|
23360469 |
2013 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
De novo genic mutations among a Chinese autism spectrum disorder cohort.
|
27824329 |
2016 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Ketogenic diet as a successful early treatment modality for SCN2A mutation.
|
30415926 |
2019 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
|
26993267 |
2016 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy.
|
29844171 |
2018 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.
|
23935176 |
2013 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A case of recurrent encephalopathy with SCN2A missense mutation.
|
25457084 |
2015 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Confirming an expanded spectrum of SCN2A mutations: a case series.
|
24659627 |
2014 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.
|
19786696 |
2009 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
|
23708187 |
2013 |