×
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700
GeneticVariation
UNIPROT
Ketogenic diet as a successful early treatment modality for SCN2A mutation.
30415926 2019
×
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700
GeneticVariation
UNIPROT
Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy.
29844171 2018
×
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700
GeneticVariation
UNIPROT
Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.
30144217 2018
×
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700
GeneticVariation
UNIPROT
SCN2A mutation in an infant presenting with migrating focal seizures and infantile spasm responsive to a ketogenic diet.
29625812 2018
×
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700
GeneticVariation
UNIPROT
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
27864847 2017
×
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700
GeneticVariation
UNIPROT
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
26993267 2016
×
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700
GeneticVariation
UNIPROT
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
26138355 2016
×
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700
GeneticVariation
UNIPROT
A case of recurrent encephalopathy with SCN2A missense mutation.
25457084 2015
×
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700
GeneticVariation
UNIPROT
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.
26291284 2015
×
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700
GeneticVariation
UNIPROT
SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet.
25459969 2015
×
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700
GeneticVariation
UNIPROT
De novo R853Q mutation of SCN2A gene and West syndrome.
25772804 2015
×
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700
GeneticVariation
UNIPROT
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
25818041 2015
×
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700
GeneticVariation
UNIPROT
Confirming an expanded spectrum of SCN2A mutations: a case series.
24659627 2014
×
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700
GeneticVariation
UNIPROT
Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene.
24710820 2014
×
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700
GeneticVariation
UNIPROT
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
24463883 2014
×
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700
GeneticVariation
UNIPROT
Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.
24579881 2014
×
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700
GeneticVariation
UNIPROT
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.
23935176 2013
×
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700
GeneticVariation
UNIPROT
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
23708187 2013
×
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700
GeneticVariation
UNIPROT
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
23662938 2013
×
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700
GeneticVariation
UNIPROT
Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings.
23550958 2013
×
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700
GeneticVariation
UNIPROT
Novel de novo SCN2A mutation in a child with migrating focal seizures of infancy.
23988467 2013
×
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700
GeneticVariation
UNIPROT
Diagnostic exome sequencing in persons with severe intellectual disability.
23033978 2012
×
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700
GeneticVariation
UNIPROT
Compromised function in the Na(v)1.2 Dravet syndrome mutation R1312T.
22677033 2012
×
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700
GeneticVariation
UNIPROT
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.
23195492 2012
×
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700
GeneticVariation
UNIPROT
SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain.
20956790 2010