rs387906684
|
Entrez Id: |
6326 |
Gene Symbol: |
SCN2A |
SCN2A
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
|
0.800 |
GeneticVariation |
UNIPROT |
Ketogenic diet as a successful early treatment modality for SCN2A mutation.
|
30415926 |
2019 |
rs387906685
|
Entrez Id: |
6326 |
Gene Symbol: |
SCN2A |
SCN2A
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
|
0.800 |
GeneticVariation |
UNIPROT |
Ketogenic diet as a successful early treatment modality for SCN2A mutation.
|
30415926 |
2019 |
rs387906686
|
Entrez Id: |
6326 |
Gene Symbol: |
SCN2A |
SCN2A
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
|
0.800 |
GeneticVariation |
UNIPROT |
Ketogenic diet as a successful early treatment modality for SCN2A mutation.
|
30415926 |
2019 |
rs1235044536
|
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 |
rs1553463676
|
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 |
rs794727444
|
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 |
rs886041259
|
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 |
rs387906684
|
Entrez Id: |
6326 |
Gene Symbol: |
SCN2A |
SCN2A
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
|
0.800 |
GeneticVariation |
UNIPROT |
Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.
|
30144217 |
2018 |
rs387906685
|
Entrez Id: |
6326 |
Gene Symbol: |
SCN2A |
SCN2A
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
|
0.800 |
GeneticVariation |
UNIPROT |
Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.
|
30144217 |
2018 |
rs387906686
|
Entrez Id: |
6326 |
Gene Symbol: |
SCN2A |
SCN2A
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
|
0.800 |
GeneticVariation |
UNIPROT |
Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.
|
30144217 |
2018 |
rs121917751
|
Entrez Id: |
6326 |
Gene Symbol: |
SCN2A |
SCN2A
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort.
|
29215089 |
2018 |
rs121917752
|
Entrez Id: |
6326 |
Gene Symbol: |
SCN2A |
SCN2A
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort.
|
29215089 |
2018 |
rs1235044536
|
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 |
rs1553463676
|
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 |
rs794727444
|
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 |
rs886041259
|
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 |
rs794727152
|
Entrez Id: |
6326 |
Gene Symbol: |
SCN2A |
SCN2A
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
A |
0.800 |
CausalMutation |
CLINVAR |
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
|
28379373 |
2017 |
rs794727152
|
Entrez Id: |
6326 |
Gene Symbol: |
SCN2A |
SCN2A
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
A |
0.800 |
CausalMutation |
CLINVAR |
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.
|
29186148 |
2017 |
rs796053126
|
Entrez Id: |
6326 |
Gene Symbol: |
SCN2A |
SCN2A
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
A |
0.800 |
CausalMutation |
CLINVAR |
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
|
28379373 |
2017 |
rs796053126
|
Entrez Id: |
6326 |
Gene Symbol: |
SCN2A |
SCN2A
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
A |
0.800 |
CausalMutation |
CLINVAR |
Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine.
|
27867041 |
2017 |
rs1553567409
|
Entrez Id: |
6326 |
Gene Symbol: |
SCN2A |
SCN2A
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
|
28379373 |
2017 |
rs796053138
|
Entrez Id: |
6326 |
Gene Symbol: |
SCN2A |
SCN2A
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
|
28379373 |
2017 |
rs796053156
|
Entrez Id: |
6326 |
Gene Symbol: |
SCN2A |
SCN2A
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
|
28379373 |
2017 |
rs869312663
|
Entrez Id: |
6326 |
Gene Symbol: |
SCN2A |
SCN2A
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Genomic diagnosis for children with intellectual disability and/or developmental delay.
|
28554332 |
2017 |
rs387906684
|
Entrez Id: |
6326 |
Gene Symbol: |
SCN2A |
SCN2A
|
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 |