|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
|
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 |
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 |
|
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 |
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
|
23708187 |
2013 |
|
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 |
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
|
23662938 |
2013 |
|
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 |
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 |
Novel de novo SCN2A mutation in a child with migrating focal seizures of infancy.
|
23988467 |
2013 |
|
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 |
GeneticVariation
|
disease |
UNIPROT |
Diagnostic exome sequencing in persons with severe intellectual disability.
|
23033978 |
2012 |
|
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 |
SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain.
|
20956790 |
2010 |
|
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 |
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 |
UNIPROT |
Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.
|
19783390 |
2009 |
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline.
|
15028761 |
2004 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
0.660 |
GeneticVariation
|
disease |
UNIPROT |
Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy.
|
29844171 |
2018 |
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
0.660 |
GeneticVariation
|
disease |
UNIPROT |
Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.
|
30144217 |
2018 |
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
0.660 |
CausalMutation
|
disease |
CLINVAR |
Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort.
|
29215089 |
2018 |