PedAM
Pediatric Disease Annotations & Medicines
| Disease | febrile seizures |
| Symptom | C0014544|epilepsy |
| Sentences | 92 |
| 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- 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- 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- 22961543 | Four mutations in the scn1b gene have been described that lead to an inherited generalized epilepsy with febrile seizures plus. |
| 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 . |
| PubMedID- 22147072 | Genetic epilepsy with febrile seizures plus: definite and borderline phenotypes. |
| PubMedID- 22151702 | Mosaic scn1a mutations in familial partial epilepsy with antecedent febrile seizures. |
| PubMedID- 21843600 | A novel scn1a missense mutation causes generalized epilepsy with febrile seizures plus in a chinese family. |
| PubMedID- 21167748 | Is temporal lobe epilepsy with childhood febrile seizures a distinctive entity. |
| PubMedID- 24578711 | Generalized epilepsy with febrile seizures plus (gefs+) is a familial epilepsy syndrome that displays a broad spectrum of clinical phenotypes ranging from classical febrile seizures to dravet syndrome20). |
| 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- 20630778 | One patient was diagnosed as generalized epilepsy with febrile seizures plus (gefs+); the other had focal seizures. |
| PubMedID- 20600615 | Novel mutation of scn1a in familial generalized epilepsy with febrile seizures plus. |
| PubMedID- 23586701 | Mutations in this gene are frequently found in dravet syndrome (ds), and are sometimes found in genetic epilepsy with febrile seizures plus (gefs+), migrating partial seizures of infancy (mpsi), other infantile epileptic encephalopathies, and rarely in infantile spasms. |
| PubMedID- 25690317 | Phenotypes included dravet syndrome (n = 23; 64%), genetic epilepsy with febrile seizures plus (gefs+) and febrile seizures plus (fs+) (n = 11; 31%) and unclassified fever-associated epilepsies (n = 2; 6%). |
| PubMedID- 23773973 | Linkage analysis to seven known loci for fs and/or genetic epilepsy with febrile seizures plus (gefs plus) was performed in a small colombian family. |
| PubMedID- 20450160 | 13, 1315-1319 as a heritable susceptibility allele for generalized epilepsy with febrile seizures plus, are also potentiated by these dhpms. |
| PubMedID- 22944210 | Generalized epilepsy with febrile seizures plus (gefs+) comprises a group of clinically and genetically heterogeneous epilepsy syndrome. |
| 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 . |
| PubMedID- 23311867 | Altered sleep regulation in a mouse model of scn1a-derived genetic epilepsy with febrile seizures plus (gefs+). |
| PubMedID- 26236192 | Abbreviations: gefs+, generalized epilepsy with febrile seizures plus; smei, severe myoclonic epilepsy of infancy; fhm1-3, familial hemiplegic migraine type 1-3, respectively; bfns, benign familial neonatal seizures; bfnis, benign familial neonatal-infantile seizures; ee, epileptic encephalopathy; pe, primary erythermalgia; pepd, paroxysmal extreme pain disorder; cip, congenital insensitivity to pain; feps2-3, familial episodic pain syndrome type 2-3, respectively; hsan7, hereditary sensory and autonomic neuropathy type 7; ea1-2, episodic ataxia type 1-2, respectively; sca6-13, spinocerebellar ataxia type 6-13, respectively; pme, progressive myoclonus epilepsy; cdsrr, cone dystrophy with supernormal rod electroretinogram. |
| PubMedID- 26361221 | So far, more than 600 different scn1a mutations of varying deleterious effect have been found to result in a broad spectrum of epileptic disorders, including generalized epilepsy with febrile seizures plus (gefs+) . |
| PubMedID- 21731658 | In one example, the disease family “generalized epilepsy with febrile seizures plus” obtains little information from the ppi network. |
| PubMedID- 25312505 | Various missense mutations of thenav1.1 channel (scn1a), which alter channel properties, have been reported ina familial syndrome of generalized epilepsy with febrile seizures plus (gefs+).scn1a-targeted rats carrying a missense mutation (n1417h) in the thirdpore region of the sodium channel were developed by gene-driven enu mutagenesis. |
| PubMedID- 22889537 | Seizures are the most common neurologic complication, occurring as febrile seizures, as exacerbations in patients with epilepsy, or as symptoms of other influenza-induced neurologic disorders. |
| 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- 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- 23653348 | Familial cases most commonly arise in genetic epilepsy with febrile seizures plus (gefs+). |
| PubMedID- 21488303 | Disease: generalized epilepsy with febrile seizures plus. |
| PubMedID- 24480790 | Mutations in gabrg2, which encodes the gamma2 subunit of gabaa receptors, can cause both genetic epilepsy with febrile seizures plus (gefs+) and dravet syndrome. |
| 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- 25795284 | These range from severe phenotypes including dravet syndrome to milder phenotypes such as genetic epilepsy with febrile seizures plus (gefs+). |
| PubMedID- 20452746 | Generalized epilepsy with febrile seizures plus (gefs+) spectrum: clinical manifestations and scn1a mutations in indonesian patients. |
| PubMedID- 24791094 | Generalized epilepsy with febrile seizures plus syndrome with mutation in various sodium channel genes scn1a, scn1b, scn2a or gaba receptor (gabrg2) genes is being increasingly recognized syndrome in children but semiology is variable and remains not completely understood story. |
| PubMedID- 22011963 | Purpose: mutation analysis of the scn1b, scn1a and gabrg2 genes in children affected by genetic (generalised) epilepsy with febrile seizures plus (gefs(+)) and their affected and some unaffected family members, coming from a restricted geographic area, was performed. |
| PubMedID- 24065921 | The c121w mutation of the beta1 subunit, in particular, gives rise to the thermosensitive generalized epilepsy with febrile seizures plus (gefs+) phenotype. |
| PubMedID- 21359874 | Cacna1a and episodic ataxia; scna1a and generalised epilepsy with febrile seizures plus (gefs+). |
| PubMedID- 20117752 | Genetic generalized epilepsy with febrile seizures plus (gefs+) is an idiopathic generalized epileptic syndrome of heterogeneous phenotype. |
| PubMedID- 20237798 | The only known β1 mutation causes generalized epilepsy with febrile seizures plus for which skeletal muscle dysfunction has not been described . |
| 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- 23015297 | Scn1a mutations can also cause genetic epilepsy with febrile seizures plus (gefs+), severe myoclonus epilepsy of infancy (smei) and some other rare epilepsy syndromes . |
| PubMedID- 21040232 | Methods: a microsatellite marker analysis was performed on the known fs and generalized epilepsy with febrile seizures plus (gefs+) loci. |
| 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). |
| PubMedID- 21488289 | Disease: generalized epilepsy with febrile seizures plus. |
| PubMedID- 24304433 | Prognostic factors for subsequent epilepsy in children with febrile seizures. |
| 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 . |
| PubMedID- 21488261 | Disease: generalized epilepsy with febrile seizures plus. |
| 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- 24076350 | Scn1a rs3812718 polymorphism and susceptibility to epilepsy with febrile seizures: a meta-analysis. |
| PubMedID- 20628201 | Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus. |
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