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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