PedAM
Pediatric Disease Annotations & Medicines
| Disease | febrile seizures |
| Phenotype | |epilepsy |
| Sentences | 95 |
| 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- 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- 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- 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- 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- 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- 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- 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- 21704126 | Genetic epilepsy with febrile seizures plus (gefs+) is a familial autosomal dominant condition characterized by genetic heterogeneity. |
| 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- 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- 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- 24304433 | Prognostic factors for subsequent epilepsy in children with febrile seizures. |
| 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- 24277604 | Generalized epilepsy with febrile seizures plus (gefs+) is an early onset febrile epileptic syndrome with therapeutic responsive (a)febrile seizures continuing later in life. |
| 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- 20237798 | The only known β1 mutation causes generalized epilepsy with febrile seizures plus for which skeletal muscle dysfunction has not been described [60]. |
| PubMedID- 21719429 | D = (scn1a protein) domain; genetic epilepsy with febrile seizures plus = genetic epilepsy with febrile seizures plus; s = (scn1a protein) segment. |
| 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- 21480876 | Purpose: mutations in the scn1a gene, which encodes the alpha1 subunit of voltage-gated sodium channels, cause generalized epilepsy with febrile seizures plus (gefs+) and severe myoclonic epilepsy of infancy (smei). |
| PubMedID- 25567098 | In particular, an equivalent mutation (c121w) in β1 causes generalized epilepsy with febrile seizures plus (gefs+). |
| PubMedID- 21488303 | Disease: generalized epilepsy with febrile seizures plus. |
| PubMedID- 21167748 | Is temporal lobe epilepsy with childhood febrile seizures a distinctive entity. |
| PubMedID- 21864321 | Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or dravet syndrome. |
| PubMedID- 21396429 | We report on two patients with scn1a mutations and severe epilepsy within the spectrum of generalized epilepsy with febrile seizures plus syndrome (gefs+), the phenotypes being consistent with ds and mae, respectively. |
| PubMedID- 20540848 | Methods: thirty-three children with idiopathic epilepsy (14 cases with history of febrile seizures and 19 cases without) and six normal controls experienced mri of the skull and brain and single-voxel 'h-mrs examinations of the hippocampi-temporal lobe. |
| PubMedID- 24805083 | We recently demonstrated that drosophila knock-in flies carrying the k1270t scn1a mutation known to cause a form of genetic epilepsy with febrile seizures plus (gefs+) exhibit a heat-induced increase in sodium current activity and seizure phenotype. |
| PubMedID- 20550552 | Purpose: generalized epilepsy with febrile seizures plus (gefs+) and severe myoclonic epilepsy in infancy (smei) are associated with sodium channel alpha-subunit type-1 gene (scn1a) mutations. |
| PubMedID- 21843600 | Generalized epilepsy with febrile seizures plus (gefs(+)) is a common familial epilepsy syndrome, which generally develops in childhood. |
| PubMedID- 20630778 | One patient was diagnosed as generalized epilepsy with febrile seizures plus (gefs+); the other had focal seizures. |
| PubMedID- 20923578 | Well known examples are genetic generalized epilepsy with febrile seizures plus [19], caused by mutations in sodium channel genes, and recently, genetic generalized epilepsy caused by the 15q13.3 cnv [70]. |
| 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- 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- 25107880 | There were higher twin concordance estimates for monozygotic (mz) than for dizygotic (dz) twins for idiopathic generalized epilepsies (mz = 0.77; dz = 0.35), genetic epilepsy with febrile seizures plus (mz = 0.85; dz = 0.25), and focal epilepsies (mz = 0.40; dz = 0.03). |
| PubMedID- 21731658 | In one example, the disease family “generalized epilepsy with febrile seizures plus” obtains little information from the ppi network. |
| PubMedID- 21156207 | Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus. |
| PubMedID- 22525008 | Generalized epilepsy with febrile seizures plus (gefs+) and severe myoclonic epilepsy of infancy (smei) differ in their clinical severity and prognosis even though mutations of the na(v) 1.1 sodium channel are responsible for both disorders. |
| PubMedID- 25281316 | This mild impairment of excitability of interneurons leads to a milder disease phenotype in 129/svj mice, similar to genetic epilepsy with febrile seizures plus in humans. |
| PubMedID- 21488261 | Disease: 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- 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- 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- 22007171 | Mutation sites responsible for causing genetic epilepsy with febrile seizures plus (gefs + 1), temporal lobe epilepsy (tle), and dravet syndrome are located in the extracellular immunoglobulin loop (meadows et al., 2002; wallace et al., 2002; audenaert et al., 2003; scheffer et al., 2007; patino et al., 2009). |
| PubMedID- 23420672 | For example, in mouse models of familial alzheimer's disease, it has been suggested that nav1.1 sodium channels are reduced at the cell surface of gabaergic basket cells of the dg, leading to disinhibition of granule cells; in some genetic forms of epilepsy (generalized epilepsy with febrile seizures-plus; severe myoclonic epilepsy in infancy), mutations in nav1.1 cause the disease (catterall et al., 2010; scharfman, 2012b; verret et al., 2012). |
| PubMedID- 23653348 | Familial cases most commonly arise in genetic epilepsy with febrile seizures plus (gefs+). |
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