eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | hyperthermia |
| Comorbidity | |epilepsy |
| Sentences | 110 |
| PubMedID- 22911482 | febrile infection-related epilepsy syndrome (fires) is a severe postinfectious epileptic encephalopathy in previously healthy children and has three phases: the initial phase with a simple febrile infection, a few days later the acute phase characterized by a peracute onset of highly recurrent seizures or refractory status epilepticus often with no more fever and generally without additional neurological features (the classical pure seizure phenotype), and last, the chronic phase with a drug-resistant epilepsy and neuropsychological impairments. |
| 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- 25332495 | febrile infection-related epilepsy syndrome (fires) is a newly recognized epileptic encephalopathy in which previously healthy school-aged children present with prolonged treatment-resistant status epilepticus (se). |
| 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- 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- 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- 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- 24665294 | Clinical similarities between dravet syndrome and generalized epilepsy with febrile seizure plus (gefs+) includes occurrence of febrile seizures and joint molecular genetic etiology. |
| PubMedID- 22618127 | In this review we describe the genetic advances in progressive myoclonus epilepsies, which are strictly monogenic disorders, genetic generalized epilepsies, mostly exhibiting complex genetic inheritance, and scn1a-related phenotypes, namely genetic generalized epilepsy with febrile seizure plus and dravet 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- 21864321 | Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or dravet syndrome. |
| PubMedID- 23794447 | febrile infection-related epilepsy syndrome (fires) is a severe epileptic syndrome that manifests with refractory seizures or status epilepticus in previously healthy children after banal febrile illness. |
| 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- 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- 22880055 | In comparison, other models of prolonged hs in naïve animals produced by prolonged exposure to high temperature lead to chronic epilepsy in about a third of pups [8], [9], while the rats exposed to the freeze lesion alone do not experience srs [4]. |
| 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- 21488258 | Disease: generalized epilepsy with febrile seizures plus. |
| PubMedID- 21488303 | Disease: generalized epilepsy with febrile seizures plus. |
| 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- 21488261 | Disease: generalized epilepsy with febrile seizures plus. |
| 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- 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- 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- 22191582 | Purpose: febrile infection-related epilepsy syndrome (fires) is an increasingly recognized epileptic syndrome that presents with multifocal refractory status epilepticus in previously normal children and evolves into a chronic, refractory, focal epilepsy with associated cognitive and behavioral difficulties. |
| PubMedID- 24842605 | Generalised (genetic) epilepsy with febrile seizures plus (gefs+) is a familial epilepsy syndrome with various phenotypes. |
| PubMedID- 20940509 | Intracranial inflammatory or infectious disease is the first consideration in epilepsy with fever and csf pleocytosis, and then diagnosis of postictal fever and postictal pleocytosis should be made only by rigorous exclusion of that possibility. |
| 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- 20117752 | Generalized epilepsy with febrile seizures plus: novel scn1a mutation. |
| PubMedID- 21719429 | D = (scn1a protein) domain; genetic epilepsy with febrile seizures plus = genetic epilepsy with febrile seizures plus; s = (scn1a protein) segment. |
| PubMedID- 20600615 | Novel mutation of scn1a in familial generalized epilepsy with febrile seizures plus. |
| PubMedID- 25567098 | In particular, an equivalent mutation (c121w) in β1 causes generalized epilepsy with febrile seizures plus (gefs+). |
| 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- 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- 20628201 | Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus. |
| PubMedID- 21167748 | Is temporal lobe epilepsy with childhood febrile seizures a distinctive entity. |
| PubMedID- 22944210 | Generalized epilepsy with febrile seizures plus (gefs+) comprises a group of clinically and genetically heterogeneous epilepsy syndrome. |
| PubMedID- 22982002 | Late-onset epilepsy in children with acute febrile encephalopathy with prolonged convulsions: a clinical and encephalographic study. |
| 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- 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- 24014518 | It bears the largest number of known epilepsy-related mutations, some associated with febrile seizures (oliva et al., 2012). |
| 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- 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- 25569746 | Different clinical phenotypes were identified, including generalized epilepsy with febrile seizure plus (gefs+), dravet syndrome, and partial epilepsy with febrile seizure plus (pefs+). |
| 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- 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- 23127267 | Therapeutic hypothermia for febrile infection-related epilepsy syndrome in two patients. |
| 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- 21777234 | To report differences and similarities between febrile infection-related epilepsy syndrome (fires) and epilepsy in female patients with protocadherin 19 (pcdh19) mutation. |
| 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- 21156207 | Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus. |