|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Ketogenic diet as a successful early treatment modality for SCN2A mutation.
|
30415926 |
2019 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.
|
30144217 |
2018 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
|
0.800 |
GeneticVariation
|
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
|
0.800 |
GeneticVariation
|
UNIPROT |
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.
|
26291284 |
2015 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A case of recurrent encephalopathy with SCN2A missense mutation.
|
25457084 |
2015 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
|
0.800 |
GeneticVariation
|
UNIPROT |
SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet.
|
25459969 |
2015 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
|
0.800 |
GeneticVariation
|
UNIPROT |
De novo R853Q mutation of SCN2A gene and West syndrome.
|
25772804 |
2015 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
|
0.800 |
GeneticVariation
|
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Confirming an expanded spectrum of SCN2A mutations: a case series.
|
24659627 |
2014 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
|
24463883 |
2014 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.
|
23935176 |
2013 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
|
23708187 |
2013 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings.
|
23550958 |
2013 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
|
23662938 |
2013 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel de novo SCN2A mutation in a child with migrating focal seizures of infancy.
|
23988467 |
2013 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Compromised function in the Na(v)1.2 Dravet syndrome mutation R1312T.
|
22677033 |
2012 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Diagnostic exome sequencing in persons with severe intellectual disability.
|
23033978 |
2012 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
|
0.800 |
GeneticVariation
|
UNIPROT |
SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain.
|
20956790 |
2010 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.
|
19783390 |
2009 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
|
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Autistic behavior
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Difficulty walking
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|