PedAM
Pediatric Disease Annotations & Medicines
| Disease | epilepsy |
| Phenotype | C0751122|dravet syndrome |
| Sentences | 7 |
| PubMedID- 21463285 | dravet syndrome (ds) is one of the most pharmacoresistant epilepsy syndromes. |
| PubMedID- 22240828 | [dravet syndrome as a cause of epilepsy and learning disability]. |
| PubMedID- 26501104 | Post hoc analysis removing all post-qc scn1a variants showed that the genome-wide burden was not biassed by the enrichment of both the sudep and the epilepsy cohorts with dravet syndrome patients bearing scn1a mutations (comparison against epilepsy controls: p = 6.3 × 10− 3; disease controls: p = 1.4 × 10− 3). |
| PubMedID- 22852769 | Deficiency in gabarg2 may be causal in dravet syndrome, a form of childhood epilepsy [91]. |
| PubMedID- 19919661 | We speculate that the results of dbs for epilepsy in patients with dravet syndrome may be related to age at initiation of dbs treatment and seizure type. |
| PubMedID- 25732146 | Here we have addressed this question by studying tay-sachs disease, a representative lysosomal storage disease, and dravet syndrome, a form of severe myoclonic epilepsy in infancy, using human in cells with feature of immature postmitotic glutamatergic neuronal cells. |
| PubMedID- 25346628 | One of the main thrusts in this effort has related to the treatment of refractory epilepsy-especially in children with dravet syndrome-using cannabidiol (cbd). |
Page: 1