|
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 |
CLINVAR |
Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.
|
27781031 |
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 |
CLINVAR |
Genomic diagnosis for children with intellectual disability and/or developmental delay.
|
28554332 |
2017 |
|
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 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Diagnostic exome sequencing in persons with severe intellectual disability.
|
23033978 |
2012 |
|
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 |
UNIPROT |
Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.
|
30144217 |
2018 |
|
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 |
GeneticVariation
|
disease |
UNIPROT |
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.
|
26291284 |
2015 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.
|
19783390 |
2009 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
|
23662938 |
2013 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene.
|
24710820 |
2014 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings.
|
23550958 |
2013 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
|
27864847 |
2017 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
SCN2A mutation in an infant presenting with migrating focal seizures and infantile spasm responsive to a ketogenic diet.
|
29625812 |
2018 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Compromised function in the Na(v)1.2 Dravet syndrome mutation R1312T.
|
22677033 |
2012 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.
|
23195492 |
2012 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
|
24463883 |
2014 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet.
|
25459969 |
2015 |