eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | febrile seizures |
| Symptom | C0014544|epilepsy |
| Sentences | 91 |
| PubMedID- 24304433 | Prognostic factors for subsequent epilepsy in children with febrile seizures. |
| 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- 24578711 | These include diseases of the nervous system (e.g., generalized epilepsy with febrile seizures plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long qt syndrome, short qt syndrome, brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and familial hyperaldosteronism), the urinary system (e.g., bartter syndrome, nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease, and hypomagnesemia with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, neuromyelitis optica, isaac syndrome, and anti-nmda n-methyl-d-aspartate receptor encephalitis). |
| PubMedID- 21719429 | D = (scn1a protein) domain; genetic epilepsy with febrile seizures plus = genetic epilepsy with febrile seizures plus; s = (scn1a protein) segment. |
| PubMedID- 22147072 | Genetic epilepsy with febrile seizures plus: definite and borderline phenotypes. |
| PubMedID- 24067191 | A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (gefs+) in a tunisian consanguineous family. |
| PubMedID- 24277604 | Generalized epilepsy with febrile seizures plus (gefs+) is an autosomal dominant disorder in which subjects have febrile seizures early in childhood, with increased risk for febrile and afebrile seizures later on in life. |
| PubMedID- 22961543 | Four mutations in the scn1b gene have been described that lead to an inherited generalized epilepsy with febrile seizures plus. |
| PubMedID- 23311867 | Altered sleep regulation in a mouse model of scn1a-derived genetic epilepsy with febrile seizures plus (gefs+). |
| PubMedID- 21864321 | Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or dravet syndrome. |
| PubMedID- 21040232 | Methods: a microsatellite marker analysis was performed on the known fs and generalized epilepsy with febrile seizures plus (gefs+) loci. |
| 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- 21843600 | A novel scn1a missense mutation causes generalized epilepsy with febrile seizures plus in a chinese family. |
| PubMedID- 21629447 | Moreover the coexistence, in smei patients, of a family history of seizure disorders belonging to the generalized epilepsy with febrile seizures plus (gefs+) spectrum, and the high percentage (95%) of de novo scn1a mutations, suggested the concept that smei is the most severe clinical picture of gefs+ phenotypes . |
| PubMedID- 21704126 | Genetic epilepsy with febrile seizures plus (gefs+) is a familial autosomal dominant condition characterized by genetic heterogeneity. |
| 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- 21167748 | Is temporal lobe epilepsy with childhood febrile seizures a distinctive entity. |
| PubMedID- 25914447 | Aeds - antiepileptic drugs, blast - basic local alignment search tool, cbz - carbamazepine, gefs+ - generalized epilepsy with febrile seizures plus, gpcr - g protein coupled receptor, nav - sodium channel with specific voltage conduction, pdb - protein data bank,pht - phenytoin, pir - protein information resources,saves - structural analysis and verification server,vgsc - voltage-gated sodium channels. |
| 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- 22944210 | Generalized epilepsy with febrile seizures plus (gefs+) comprises a group of clinically and genetically heterogeneous epilepsy syndrome. |
| PubMedID- 21488258 | Disease: generalized epilepsy with febrile seizures plus. |
| 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- 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- 20450160 | 13, 1315-1319 as a heritable susceptibility allele for generalized epilepsy with febrile seizures plus, are also potentiated by these dhpms. |
| 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- 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- 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- 20630778 | One patient was diagnosed as generalized epilepsy with febrile seizures plus (gefs+); the other had focal seizures. |
| 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- 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- 20722665 | Recent evidence has suggested possible genetic links to the gefs+ (generalized epilepsy with febrile seizures plus) family, and, additionally, some children with structural brain lesions can mimic the doose syndrome phenotype. |
| PubMedID- 21156207 | Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus. |
| PubMedID- 26361221 | (2012) created a fly knock-in model of human generalized epilepsy with febrile seizures plus (gefs+), a wide-spectrum disorder characterized by fever-associated seizing in childhood and lifelong affliction. |
| 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- 21731658 | In one example, the disease family “generalized epilepsy with febrile seizures plus” obtains little information from the ppi network. |
| 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- 21359874 | Cacna1a and episodic ataxia; scna1a and generalised epilepsy with febrile seizures plus (gefs+). |
| 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- 21858011 | Although the association of feb with an increased risk of adult epileptic disorders such as tle remains controversial , febrile seizures can lead to epilepsy in some animal models, probably due to an imbalance of excitation and inhibition in the limbic system 4. |
| PubMedID- 22471526 | Over 800 mutations have been identified in the voltage-gated sodium channel genes scn1a and scn2a in human epilepsies, including genetic epilepsy with febrile seizures plus (gefs+) and dravet syndrome. |
| 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- 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- 25567098 | In particular, an equivalent mutation (c121w) in β1 causes generalized epilepsy with febrile seizures plus (gefs+). |
| 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- 24065921 | The c121w mutation of the β1 subunit, in particular, gives rise to the thermosensitive generalized epilepsy with febrile seizures plus (gefs+) phenotype. |
| 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- 20452746 | Generalized epilepsy with febrile seizures plus (gefs+) is a childhood genetic epilepsy syndrome. |
| PubMedID- 24842605 | Generalised (genetic) epilepsy with febrile seizures plus (gefs+) is a familial epilepsy syndrome with various phenotypes. |
| PubMedID- 21488303 | Disease: generalized epilepsy with febrile seizures plus. |
| PubMedID- 24671875 | Conclusions: deficiencies exist in pediatric residents' knowledge of seizures and epilepsy, especially with respect to febrile seizures and pharmacology of antiepileptic medications. |
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