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PedAM

Pediatric Disease Annotations & Medicines




Disease febrile seizures
Symptom C0014544|epilepsies
Sentences 4
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 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) ; dysregulation of eaac1 was reported in experimental models of epilepsy and also in the hippocampus of temporal lobe epilepsy (tle) patients .
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).
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.

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