PedAM
Pediatric Disease Annotations & Medicines
| Disease | febrile seizures |
| Phenotype | C0014544|epilepsy |
| Sentences | 95 |
| PubMedID- 20600615 | Novel mutation of scn1a in familial generalized epilepsy with febrile seizures plus. |
| 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- 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- 21040232 | Methods: a microsatellite marker analysis was performed on the known fs and generalized epilepsy with febrile seizures plus (gefs+) loci. |
| 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 [59]. |
| PubMedID- 22147072 | Generalised epilepsy with febrile seizures plus (gefs+) is the most studied familial epilepsy syndrome. |
| PubMedID- 21858011 | Although the association of feb with an increased risk of adult epileptic disorders such as tle remains controversial [1], [17], 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- 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- 23507332 | Conclusion: the presence of epileptiform discharges is a significant risk factor for subsequent epilepsy in patients with complex 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- 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- 21359874 | Cacna1a and episodic ataxia; scna1a and generalised epilepsy with febrile seizures plus (gefs+)]. |
| PubMedID- 20452746 | Generalized epilepsy with febrile seizures plus (gefs+) is a childhood genetic epilepsy syndrome. |
| 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- 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- 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- 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 [4–6]. |
| 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- 24842605 | Generalised (genetic) epilepsy with febrile seizures plus (gefs+) is a familial epilepsy syndrome with various phenotypes. |
| 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- 22961543 | The severity of channel impairment has been suggested to underlie the different efficacies of some anti-epileptic drugs in treating either generalized epilepsy with febrile seizures plus or severe myoclonic epilepsy of infancy, of which many act through inhibiting vgscs. |
| 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- 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 [32]. |
| PubMedID- 21488289 | Disease: generalized epilepsy with febrile seizures plus. |
| 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- 23032131 | Scn1a is a gene that codes for the voltage-dependent sodium channel alpha1 subunit and has been implicated in generalized epilepsy with febrile seizures plus and severe myoclonic epilepsy in infancy. |
| PubMedID- 23311867 | Altered sleep regulation in a mouse model of scn1a-derived genetic epilepsy with febrile seizures plus (gefs+). |
| PubMedID- 20628201 | Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus. |
| 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- 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- 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- 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- 25206388 | Sodium channel α1 subunit mutations have also been found in generalized epilepsy with febrile seizures plus, infantile spasms and severe epilepsy of infancy[5]. |
| 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- 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- 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 [57]. |
| PubMedID- 24076350 | Scn1a rs3812718 polymorphism and susceptibility to epilepsy with febrile seizures: a meta-analysis. |
| PubMedID- 20117752 | Genetic generalized epilepsy with febrile seizures plus (gefs+) is an idiopathic generalized epileptic syndrome of heterogeneous phenotype. |
| 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- 20450160 | 13, 1315-1319] as a heritable susceptibility allele for generalized epilepsy with febrile seizures plus, are also potentiated by these dhpms. |
| PubMedID- 24014518 | It bears the largest number of known epilepsy-related mutations, some associated with febrile seizures (oliva et al., 2012). |
| PubMedID- 21488258 | Disease: generalized epilepsy with febrile seizures plus. |
| PubMedID- 25795284 | These range from severe phenotypes including dravet syndrome to milder phenotypes such as genetic epilepsy with febrile seizures plus (gefs+). |
| PubMedID- 22944210 | Generalized epilepsy with febrile seizures plus (gefs+) comprises a group of clinically and genetically heterogeneous epilepsy syndrome. |
| 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- 24586108 | Epileptiform discharges and frontal paroxysmal eeg abnormality act as predictive marker for subsequent epilepsy in children with complex febrile seizures. |
| PubMedID- 24067191 | Genetic (formerly named generalized [2]) epilepsy with febrile seizures plus (gefs+) is such a mendelian inherited epileptic syndrome. |
| PubMedID- 20194124 | Generalized epilepsy with febrile seizures plus (gefs+) is caused by missense mutations in nav1.1 channels, which have variable biophysical effects on sodium channels expressed in non-neuronal cells, but may primarily cause loss of function when expressed in mice. |
| PubMedID- 23205932 | Genetic epilepsy with febrile seizures plus (gefs+) phenotypes occurred in 16 relatives. |
| 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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