PedAM
Pediatric Disease Annotations & Medicines
| Disease | epilepsy |
| Phenotype | C0751122|severe myoclonic epilepsy in infancy |
| Sentences | 1 |
| PubMedID- 23420672 | For example, in mouse models of familial alzheimer's disease, it has been suggested that nav1.1 sodium channels are reduced at the cell surface of gabaergic basket cells of the dg, leading to disinhibition of granule cells; in some genetic forms of epilepsy (generalized epilepsy with febrile seizures-plus; severe myoclonic epilepsy in infancy), mutations in nav1.1 cause the disease (catterall et al., 2010; scharfman, 2012b; verret et al., 2012). |
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