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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease febrile seizures
Symptom |epilepsy
Sentences 91
PubMedID- 20600615 Generalized epilepsy with febrile seizures plus (gefs+) is an epileptic syndrome inherited in autosomal dominant mode.
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- 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- 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- 20237798 The only known β1 mutation causes generalized epilepsy with febrile seizures plus for which skeletal muscle dysfunction has not been described .
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- 20117752 Genetic generalized epilepsy with febrile seizures plus (gefs+) is an idiopathic generalized epileptic syndrome of heterogeneous phenotype.
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- 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- 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- 26011637 Community structure analysis of transcriptional networks reveals distinct molecular pathways for early- and late-onset temporal lobe epilepsy with childhood 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- 24076350 Scn1a rs3812718 polymorphism and susceptibility to epilepsy with febrile seizures: a meta-analysis.
PubMedID- 24586108 Epileptiform discharges and frontal paroxysmal eeg abnormality act as predictive marker for subsequent epilepsy in children with complex febrile seizures.
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 .
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- 24649475 Information collected included seizure type and frequency, age at onset, epilepsy duration, history of febrile convulsions, and magnetic resonance imaging (mri) abnormalities.
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 .
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- 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 .
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- 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- 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- 20628201 Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus.
PubMedID- 22011963 Generalised epilepsy with febrile seizures plus (gefs(+)): molecular analysis in a restricted area.
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- 21488289 Disease: generalized epilepsy with febrile seizures plus.
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- 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- 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- 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- 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- 24257433 Phenotypes were found at both extremes of the genetic (generalized) epilepsy with febrile seizures plus spectrum and distribution of phenotypes suggested modifying familial, possibly genetic factors.
PubMedID- 21488261 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- 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- 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- 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- 20923578 Well known examples are genetic generalized epilepsy with febrile seizures plus , caused by mutations in sodium channel genes, and recently, genetic generalized epilepsy caused by the 15q13.3 cnv .
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- 23205932 Genetic epilepsy with febrile seizures plus (gefs+) phenotypes occurred in 16 relatives.

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