eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | hyperthermia |
| Comorbidity | C0014544|epilepsy |
| Sentences | 110 |
| PubMedID- 22147072 | Generalised epilepsy with febrile seizures plus (gefs+) is the most studied familial epilepsy syndrome. |
| PubMedID- 20630778 | One patient was diagnosed as generalized epilepsy with febrile seizures plus (gefs+); the other had focal seizures. |
| PubMedID- 19850427 | Recently clinical entities, characterized by severe epilepsy with a febrile, acute or sub-acute onset, sometimes associated with status epilepticus, followed by drug-resistant, partial epilepsy have been described. |
| PubMedID- 20410126 | Several missense mutations of the na(v)1.1 channel (scn1a), which alter channel properties, have been reported in a familial syndrome of gefs+ (generalized epilepsy with febrile seizures plus). |
| PubMedID- 24355397 | Scn1a mutations have been associated to a number of neurological disorders, including generalized epilepsy with febrile seizures plus, dravet syndrome, borderline myoclonic epilepsy in infancy, intractable childhood epilepsy with generalized tonic-clonic seizures, familial hemiplegic migraine, and a number of cryptogenic focal and generalized epilepsies. |
| PubMedID- 23205932 | Genetic epilepsy with febrile seizures plus (gefs+) phenotypes occurred in 16 relatives. |
| PubMedID- 23895530 | Mutations of the scn1a subunit of the sodium channel is a cause of genetic epilepsy with febrile seizures plus (gefs(+) ) in multiplex families and accounts for 70-80% of dravet syndrome (ds). |
| PubMedID- 24065921 | Several mutations/deletions in the auxiliary β1 subunit give rise to generalized epilepsy with febrile seizures plus (gefs+) (wallace et al., 1998; audenaert et al., 2003; xu et al., 2007). |
| PubMedID- 20450160 | 13, 1315-1319] as a heritable susceptibility allele for generalized epilepsy with febrile seizures plus, are also potentiated by these dhpms. |
| PubMedID- 21704126 | Genetic epilepsy with febrile seizures plus (gefs+) is a familial autosomal dominant condition characterized by genetic heterogeneity. |
| PubMedID- 21731658 | In one example, the disease family “generalized epilepsy with febrile seizures plus” obtains little information from the ppi network. |
| PubMedID- 22151702 | Mutations of scn1a generate phenotypes ranging from the extremely severe form of dravet syndrome (ds) to a mild form of generalized epilepsy with febrile seizures plus (gefs+). |
| PubMedID- 21053371 | Interestingly, cognitive functions were normal in several family members of 2 families: the familial condition in family 1 was suggestive of generalized epilepsy with febrile seizures plus (gefs+) whereas all three affected females had partial cryptogenic epilepsy. |
| PubMedID- 21858011 | Further orphan loci have been mapped for a related disorder, genetic (generalized) epilepsy with febrile seizures plus (gefs+).we show that both spatially mapped and 'traditional' gene expression data from the human brain can be successfully employed to predict the most promising candidate genes for feb and gefs+, apply our prediction method to the remaining orphan loci and discuss the validity of the predictions. |
| PubMedID- 20550552 | Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of na(v) 1.1. |
| PubMedID- 21406232 | A rat model of temporal lobe epilepsy following hyperthermic se was previously established in our laboratory, wherein a focal cortical lesion induced at postnatal day 1 (p1), followed by a hyperthermic se (more than 30 min) at p10, leads to hippocampal atrophy at p22 (dual pathology model) and spontaneous recurrent seizures (srs) with mild visuospatial memory deficits in adult rats. |
| PubMedID- 20345937 | febrile infection-related epilepsy syndrome (fires): a nonencephalitic encephalopathy in childhood. |
| PubMedID- 23507332 | Conclusion: the presence of epileptiform discharges is a significant risk factor for subsequent epilepsy in patients with complex febrile seizures. |
| PubMedID- 24586108 | Epileptiform discharges and frontal paroxysmal eeg abnormality act as predictive marker for subsequent epilepsy in children with complex febrile seizures. |
| PubMedID- 24024028 | There is no known cause of mae identified although there may be a possible genetic link to the generalized epilepsy with febrile seizures plus (gefs+) family [50]. |
| PubMedID- 25735907 | Purpose of the study: to reassess the predictive role of clinical parameters and epileptiform paroxysmal eeg abnormalities for subsequent epilepsy in patients with febrile seizures. |
| PubMedID- 24671875 | Conclusions: deficiencies exist in pediatric residents' knowledge of seizures and epilepsy, especially with respect to febrile seizures and pharmacology of antiepileptic medications. |
| PubMedID- 26042039 | For example, for scn1b mutations related to cns diseases, a single mutant allele may result in the development of a milder disease like generalized epilepsy with febrile seizures plus. |
| PubMedID- 21876820 | Interestingly, scn1a mutations have also been found to cause generalised epilepsy with febrile seizures (gefs) as well as a variety of disorders with neurocognitive impairment and variable seizure susceptibility [165, 167–171]. |
| PubMedID- 22292491 | Purpose: a mutation in the beta(1) subunit of the voltage-gated sodium (na(v)) channel, beta(1) (c121w), causes genetic epilepsy with febrile seizures plus (gefs+), a pediatric syndrome in which febrile seizures are the predominant phenotype. |
| PubMedID- 23400244 | febrile infection-related epilepsy syndrome (fires) is a catastrophic and usually refractory epilepsy syndrome that occurs after a febrile illness in previously normal children. |
| PubMedID- 20452746 | Generalized epilepsy with febrile seizures plus (gefs+) spectrum: clinical manifestations and scn1a mutations in indonesian patients. |
| PubMedID- 22787629 | Generalized epilepsy with febrile seizures plus (gefs+) is caused by missense mutations in nav1.1 channels, which have variable functional effects on sodium channels expressed in non-neuronal cells, but may primarily cause loss of function when expressed in mice. |
| PubMedID- 21488289 | Disease: generalized epilepsy with febrile seizures plus. |
| PubMedID- 23248692 | The mutation identified in this patient is located in the pore-forming loop of scn1a and this case report suggests missense mutation in pore-forming loop causes generalized epilepsy with febrile seizure plus (gefs+) with clinically more severe neurologic phenotype including intellectual disabilities (mental retardation and autism features) and neuropsychiatric disease (anxiety disorder). |
| PubMedID- 22011963 | Generalised epilepsy with febrile seizures plus (gefs(+)): molecular analysis in a restricted area. |
| PubMedID- 22783167 | Mutations of gabaa and na+ channels can lead to familial forms of generalized epilepsy with complex febrile seizures [gefs+; (scheffer and berkovic, 1997; spampanato et al., 2004; nakayama, 2009)]. |
| PubMedID- 22961543 | Generalized epilepsy with febrile seizures plus mutations change expression and function of nav1.1 channels due to both gain- and loss-of-function mutations. |
| PubMedID- 21359874 | Cacna1a and episodic ataxia; scna1a and generalised epilepsy with febrile seizures plus (gefs+)]. |
| PubMedID- 25590135 | They generate a wide spectrum of phenotypes ranging from the relatively mild generalized epilepsy with febrile seizures plus (gefs+) to other severe epileptic encephalopathies, including myoclonic epilepsy in infancy (smei), cryptogenic focal epilepsy (cfe), cryptogenic generalized epilepsy (cge) and a distinctive subgroup termed as severe infantile multifocal epilepsy (simfe). |
| PubMedID- 23066759 | Aim: febrile infection-related epilepsy syndrome (fires) is an enigmatic seizure disorder in childhood with an innocuous febrile infection triggering severe and intractable multifocal epilepsy, mostly with status epilepticus. |
| PubMedID- 24067191 | Genetic (formerly named generalized [2]) epilepsy with febrile seizures plus (gefs+) is such a mendelian inherited epileptic syndrome. |
| PubMedID- 23311867 | Altered sleep regulation in a mouse model of scn1a-derived genetic epilepsy with febrile seizures plus (gefs+). |
| PubMedID- 22457654 | Specifically, mutations in the nav1.1 alpha subunit gene (scn1a) are responsible for “generalized epilepsy with febrile seizures plus” (gefs+; scheffer and berkovic, 1997) and dravet’s syndrome (mantegazza et al., 2010; meisler et al., 2010). |
| PubMedID- 21248271 | Missense mutations occurred most frequently in the voltage and ion-pore regions where changes in amino acid polarity were greater in the dravet group compared to the genetic epilepsy with febrile seizures plus group (3.6 vs 2.7; p = 0.031). |
| PubMedID- 23945787 | Genetic epilepsy with febrile seizures plus (gefs(+)) is an inherited epilepsy that can result from mutations in at least four ion channel subunits. |
| PubMedID- 22848613 | It includes a spectrum of phenotypes with mild and severe forms of epilepsy associated with febrile and afebrile seizure. |
| PubMedID- 21425109 | Results: nine patients presented generalised epilepsy with febrile seizures plus; six had dravet's syndrome; six had borderline dravet's syndrome; two had doose's syndrome; and three of them had cryptogenic partial epilepsy. |
| PubMedID- 20382841 | Generalized epilepsy with febrile seizure plus (gefs+) is an autosomal dominant disorder. |
| PubMedID- 24076350 | Scn1a rs3812718 polymorphism and susceptibility to epilepsy with febrile seizures: a meta-analysis. |
| PubMedID- 22425777 | The first described beta1 subunit mutation is the c121w, that is related to generalized epilepsy with febrile seizures plus (gefs+), a childhood genetic epilepsy syndrome. |
| PubMedID- 24405698 | Conclusions: results from this relatively small series provide evidence that vaccinations do not significantly affect clinical and cognitive evolution of dravet syndrome and generalized epilepsy with febrile seizure plus patients even if they carry scn1a mutations. |
| PubMedID- 20735403 | Similar selectivity was observed for ranolazine block of increased persistent current exhibited by na(v) 1.1 channel mutations representing three distinct clinical syndromes, generalized epilepsy with febrile seizures plus (r1648h, t875m), severe myoclonic epilepsy of infancy (r1648c, f1661s) and familial hemiplegic migraine type 3 (l263v, q1489k). |
| PubMedID- 24257433 | Phenotypes were found at both extremes of the genetic (generalized) epilepsy with febrile seizures plus spectrum and distribution of phenotypes suggested modifying familial, possibly genetic factors. |
| PubMedID- 21843600 | Generalized epilepsy with febrile seizures plus (gefs(+)) is a common familial epilepsy syndrome, which generally develops in childhood. |