loading...| Preferred Name |
DRAVET SYNDROME |
|
| Synonyms |
SMEI DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A DRVT SEVERE MYOCLONIC EPILEPSY OF INFANCY EIEE6 DEE6A EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/607208 |
|
| altLabel |
SMEI DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A DRVT SEVERE MYOCLONIC EPILEPSY OF INFANCY EIEE6 DEE6A EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6 |
|
| cui |
C0751122 |
|
| Gene Locus |
2q24 |
|
| Gene Symbol |
DRVT DEE6B SCN1A GEFSP2 SMEI FEB3A DEE6A FHM3 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU000691 http://purl.bioontology.org/ontology/OMIM/MTHU003582 http://purl.bioontology.org/ontology/OMIM/MTHU057607 http://purl.bioontology.org/ontology/OMIM/MTHU000302 http://purl.bioontology.org/ontology/OMIM/MTHU000393 http://purl.bioontology.org/ontology/OMIM/MTHU071685 http://purl.bioontology.org/ontology/OMIM/MTHU002980 http://purl.bioontology.org/ontology/OMIM/MTHU071684 http://purl.bioontology.org/ontology/OMIM/MTHU002883 http://purl.bioontology.org/ontology/OMIM/MTHU003583 http://purl.bioontology.org/ontology/OMIM/MTHU001319 http://purl.bioontology.org/ontology/OMIM/MTHU064849 http://purl.bioontology.org/ontology/OMIM/MTHU064247 http://purl.bioontology.org/ontology/OMIM/MTHU042911 http://purl.bioontology.org/ontology/OMIM/MTHU000199 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
607208 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
DRAVET SYNDROME |
|
| Scope Statement |
Caused by mutation in the sodium voltage-gated channel, alpha subunit 1 gene (SCN1A, 182389.0007) [MOLECULAR BASIS] De novo mutation (in most cases) [MISCELLANEOUS] EEG may be normal at first [MISCELLANEOUS] Phenotypic variability [MISCELLANEOUS] Onset in first year of life [MISCELLANEOUS] Seizures are refractory to medical therapy [MISCELLANEOUS] Psychomotor delay usually becomes apparent around 2 years of age [MISCELLANEOUS] May be induced by fever or hot bath [MISCELLANEOUS] Psychomotor delay may be apparent at onset of seizures [MISCELLANEOUS] |
|
| tui |
T047 |