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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease febrile seizures
Comorbidity C0014544|epilepsy
Sentences 96
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- 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- 22151702 Mosaic scn1a mutations in familial partial epilepsy with antecedent febrile seizures.
PubMedID- 23507332 Purpose: to identify the risk factors for subsequent epilepsy in patients with complex febrile seizures from a single-center retrospective cohort.
PubMedID- 23205932 Genetic epilepsy with febrile seizures plus (gefs+) phenotypes occurred in 16 relatives.
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- 20382841 Generalized epilepsy with febrile seizure plus (gefs+) is an autosomal dominant disorder.
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- 25795284 These range from severe phenotypes including dravet syndrome to milder phenotypes such as genetic epilepsy with febrile seizures plus (gefs+).
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- 20450160 13, 1315-1319] as a heritable susceptibility allele for generalized epilepsy with febrile seizures plus, are also potentiated by these dhpms.
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- 24586108 Epileptiform discharges and frontal paroxysmal eeg abnormality act as predictive marker for subsequent epilepsy in children with complex febrile seizures.
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- 21488303 Disease: generalized epilepsy with febrile seizures plus.
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- 21425109 Introduction: the most frequent mutations in the spectrum of epilepsy with febrile seizures plus are those in the voltage-dependent sodium channels or in the gamma-aminobutyric acid receptors.
PubMedID- 20600615 Generalized epilepsy with febrile seizures plus (gefs+) is an epileptic syndrome inherited in autosomal dominant mode.
PubMedID- 21719429 D = (scn1a protein) domain; genetic epilepsy with febrile seizures plus = genetic epilepsy with febrile seizures plus; s = (scn1a protein) segment.
PubMedID- 22147072 Generalised epilepsy with febrile seizures plus (gefs+) is the most studied familial epilepsy syndrome.
PubMedID- 24405698 Conclusions: results from this relatively small series provide evidence that vaccinations do not significantly affect clinical and cognitive evolution of dravet syndrome and generalized epilepsy with febrile seizure plus patients even if they carry scn1a mutations.
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- 24076350 Scn1a rs3812718 polymorphism and susceptibility to epilepsy with febrile seizures: a meta-analysis.
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- 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- 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- 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- 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- 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- 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- 21488258 Disease: generalized epilepsy with febrile seizures plus.
PubMedID- 21843600 Generalized epilepsy with febrile seizures plus (gefs(+)) is a common familial epilepsy syndrome, which generally develops in childhood.
PubMedID- 24649475 Information collected included seizure type and frequency, age at onset, epilepsy duration, history of febrile convulsions, and magnetic resonance imaging (mri) abnormalities.
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- 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- 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- 21488261 Disease: generalized epilepsy with febrile seizures plus.
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- 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- 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- 21167748 Is temporal lobe epilepsy with childhood febrile seizures a distinctive entity.
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- 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- 24671875 Conclusions: deficiencies exist in pediatric residents' knowledge of seizures and epilepsy, especially with respect to febrile seizures and pharmacology of antiepileptic medications.
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- 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- 20630778 One patient was diagnosed as generalized epilepsy with febrile seizures plus (gefs+); the other had focal seizures.
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- 21704126 Genetic epilepsy with febrile seizures plus (gefs+) is a familial autosomal dominant condition characterized by genetic heterogeneity.
PubMedID- 21731658 In one example, the disease family “generalized epilepsy with febrile seizures plus” obtains little information from the ppi network.

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