PedAM
Pediatric Disease Annotations & Medicines
| Disease | febrile seizures |
| Phenotype | C0014544|epilepsies |
| Sentences | 5 |
| PubMedID- 21425109 | Conclusions: epilepsies with febrile seizures plus make up a genetically heterogeneous group. |
| PubMedID- 24014518 | Several rarer epilepsies featuring febrile seizures are caused by mutations in scn1a, which encodes a brain-expressed sodium channel subunit targeted by many anti-epileptic drugs. |
| PubMedID- 22151702 | It is suspected that mosaic mutations of scn1a may cause other types of familial epilepsies with febrile seizures (fs), which are more common clinically. |
| PubMedID- 26011637 | Two of these genes are vips: scn9a, which codes for nav1.7 sodium channel and whose allelic variants are implicated in genetic epilepsies with febrile seizures [46, 47] and rtn2, also a vip in l-de network module c, a regulator of the trafficking and function of glutamate transporter eaac1 (excitatory amino acid carrier 1) [48]; dysregulation of eaac1 was reported in experimental models of epilepsy and also in the hippocampus of temporal lobe epilepsy (tle) patients [49]. |
| PubMedID- 25874779 | Diseases caused by mutations in scn1a are currently named genetic epilepsies with febrile seizures plus, and this term stands for expanded spectrum of syndrome previously called as gefs+ (generalized epilepsy with febrile seizures plus). |
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