eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | hyperthermia |
| Comorbidity | |epilepsy |
| Sentences | 110 |
| PubMedID- 25795284 | These range from severe phenotypes including dravet syndrome to milder phenotypes such as genetic epilepsy with febrile seizures plus (gefs+). |
| PubMedID- 26011637 | Community structure analysis of transcriptional networks reveals distinct molecular pathways for early- and late-onset temporal lobe epilepsy with childhood febrile seizures. |
| PubMedID- 25383238 | The proposed genetic syndrome that is called generalized epilepsy with febrile seizures plus (gefs+) is a spectrum of clinical epilepsy phenotypes, with the most severe phenotype of myoclonic-astatic epilepsy [32]. |
| PubMedID- 20194124 | Generalized epilepsy with febrile seizures plus (gefs+) is caused by missense mutations in nav1.1 channels, which have variable biophysical effects on sodium channels expressed in non-neuronal cells, but may primarily cause loss of function when expressed in mice. |
| PubMedID- 24955329 | Mutations in the voltage-gated sodium-channel gene alpha subunit (scn1a) were discovered in an epileptic syndrome called genetic epilepsy with febrile seizures plus (gef +) including some patients with severe myoclonic epilepsy of infancy (smei) in gef + families [4–6]. |
| PubMedID- 21040232 | Methods: a microsatellite marker analysis was performed on the known fs and generalized epilepsy with febrile seizures plus (gefs+) loci. |
| PubMedID- 22369498 | Background: the current report examines the risk of and predictors for developing epilepsy in children with febrile seizure (fs). |
| PubMedID- 21959126 | Eeg characteristics predict subsequent epilepsy in children with febrile seizure. |
| PubMedID- 22701429 | Generalized epilepsy with febrile seizures plus (gefs+) is a childhood-onset syndrome featuring febrile seizures (fs) and afebrile epileptic convulsions within the same pedigree. |
| PubMedID- 20522430 | Background mutations in scn1a can cause genetic epilepsy with febrile seizures plus (gefs+, inherited missense mutations) or dravet syndrome (ds, de novo mutations of all types). |