eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | febrile seizures |
| Comorbidity | |epilepsy |
| Sentences | 96 |
| 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- 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- 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- 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- 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- 23248692 | Generalized epilepsy with febrile seizure plus (gefs+) spectrum: novel de novo mutation of scn1a detected in a malaysian patient. |
| 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- 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- 24665294 | Gefs+ or generalized epilepsy with febrile seizure plus is a familial epileptic syndrome inherited as an autosomal- dominant characteristic that even in a genotypically identical family has a great phenotypic heterogeneity pattern. |
| 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- 20117752 | Genetic generalized epilepsy with febrile seizures plus (gefs+) is an idiopathic generalized epileptic syndrome of heterogeneous phenotype. |
| PubMedID- 21864321 | Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or dravet syndrome. |
| PubMedID- 25914447 | Abbreviations: 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- 22369498 | Background: the current report examines the risk of and predictors for developing epilepsy in children with febrile seizure (fs). |
| PubMedID- 21359874 | Cacna1a and episodic ataxia; scna1a and generalised epilepsy with febrile seizures plus (gefs+)]. |
| 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- 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- 24257433 | Genetic (generalized) epilepsy with febrile seizures plus is a familial epilepsy syndrome with marked phenotypic heterogeneity ranging from simple febrile seizure to severe phenotypes. |
| 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- 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- 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- 22944210 | Generalized epilepsy with febrile seizures plus (gefs+) comprises a group of clinically and genetically heterogeneous epilepsy syndrome. |
| 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- 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- 20452746 | Generalized epilepsy with febrile seizures plus (gefs+) spectrum: clinical manifestations and scn1a mutations in indonesian patients. |
| PubMedID- 23311867 | Altered sleep regulation in a mouse model of scn1a-derived genetic epilepsy with febrile seizures plus (gefs+). |
| PubMedID- 24842605 | Generalised (genetic) epilepsy with febrile seizures plus (gefs+) is a familial epilepsy syndrome with various phenotypes. |
| 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- 20628201 | Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus. |
| 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- 25917466 | Genetic epilepsy with febrile seizures plus (gefs+) is a complex autosomal dominant disorder usually caused by mutations in scn1a (a voltage-gated sodium channel). |
| 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- 24067191 | Background: genetic epilepsy with febrile seizures plus (gefs+) is a familial epilepsy syndrome with extremely variable expressivity. |
| PubMedID- 25567098 | In particular, an equivalent mutation (c121w) in β1 causes generalized epilepsy with febrile seizures plus (gefs+). |
| 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- 21488289 | Disease: generalized epilepsy with febrile seizures plus. |
| 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- 21156207 | Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus. |
| PubMedID- 24312076 | Those with mri-negative pet-positive temporal lobe epilepsy demonstrated lower frequency of history of febrile convulsions and of hippocampal sclerosis at pathological examination, but more widespread hypometabolism than those with hippocampal sclerosis on mri (17). |
| 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- 21959126 | Eeg characteristics predict subsequent epilepsy in children with febrile seizure. |
| PubMedID- 24014518 | It bears the largest number of known epilepsy-related mutations, some associated with febrile seizures (oliva et al., 2012). |
| 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- 21040232 | Methods: a microsatellite marker analysis was performed on the known fs and generalized epilepsy with febrile seizures plus (gefs+) loci. |
| PubMedID- 26011637 | Community structure analysis of transcriptional networks reveals distinct molecular pathways for early- and late-onset temporal lobe epilepsy with childhood febrile seizures. |
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