Severe Myoclonic Epilepsy In Infancy(Dravet syndrome) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Neurodevelopmental disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Neurodevelopmental disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | SCN1A/6323 | sodium voltage-gated channel alpha subunit 1 | 2q24.3 | Chr2, NC_000002.12 (165984641..166149161, complement) |
164521 nt | 31 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | GABRG2/2566 | gamma-aminobutyric acid type A receptor subunit gamma2 | 5q34 | Chr5, NC_000005.10 (162067465..162155539) |
88075 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | SNX27/81609 | sorting nexin 27 | 1q21.3 | Chr1, NC_000001.11 (151612050..151699080) |
87031 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | SCN9A/6335 | sodium voltage-gated channel alpha subunit 9 | 2q24.3 | Chr2, NC_000002.12 (166195185..166375987, complement) |
180803 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |