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Generalized Epilepsy with Febrile Seizures-plus Type 4

GEFS+


Presentation

  • GEFS more commonly presents in small families, or perhaps occurs with spontaneous mutations such that the genetic contributions may not be appreciated by the physicians caring for the patients, unless the individual presents with a severe phenotype, such[clinicalgate.com]
  • Designed to be read cover-to-cover, this highly practical reference covers basic science, assessment, and treatment and uses clear, succinct narratives, lists, tables, and illustrations to present the essential information needed to understand all aspects[books.google.com]
  • He has been the Editor in Chief, JAMA Neurology (1997- present) and a member of the Editorial Board of JAMA (1997-present).[books.google.de]
  • FS was used to describe individuals who had some atypical feature to their FS such as a presentation before 3 months or after 6 years of age. Also, FS could refer to the presence of afebrile seizures.[link.springer.com]
Gaucher Disease
  • disease type 2 Gaucher disease type 3 Generalized bulbospinal muscular atrophy Generalized epilepsy with febrile seizures-plus Generalized epilepsy-paroxysmal dyskinesia syndrome Generalized isolated dystonia Genetic central nervous system and retinal[se-atlas.de]
Type A Personality
  • Treatment Treatment very much depends on the seizure type or types each person has. For children (and adults) who only have febrile convulsions, regular treatment with epilepsy medicines is not usually required.[epilepsy.org.uk]
Cognitive Disorder
  • Various factors including long-lasting epilepsy and early age of onset may be associated with cognitive disorders.[content.iospress.com]

Workup

  • […] considered in children aged 12-18 months, because clinical signs and symptoms of bacterial meningitis may be subtle in this age group In children older than 18 months, the decision to perform lumbar puncture rests on the clinical suspicion of meningitis See Workup[emedicine.medscape.com]
Focal Spikes
  • Patients with focal seizures may have focal spikes or focal slowing ( 3 ). PATHOPHYSIOLOGY Buy Membership for Pediatrics Category to continue reading. Learn more here Pellock's Pediatric Epilepsy[clinicalgate.com]
  • Focal spikes in temporo-parieto-occipital were observed in ictal EEG. Neurological examination, MRI and metabolic tests were within normal range. Seizures ceased under valproate (VPA) treatment.[omicsonline.org]
Photoparoxysmal Response
  • The EEG may initially show focal spikes in the posterior derivations, but later, generalized spike–wave discharges develop in most individuals, and a photoparoxysmal response may been seen in some. EEG FEATURES EEG backgrounds are usually normal.[clinicalgate.com]
Colitis
  • A critical role for transforming growth factor-beta but not interleukin 4 in the suppression of T helper type 1 -mediated colitis by CD45RB(low) CD4 T cells. J Exp Med. ‏[books.google.com]

Treatment

  • Each chapter includes diagnostic and treatment algorithms to guide practitioners in clinical decision making.[books.google.com]
  • Treatment Treatment very much depends on the seizure type or types each person has. For children (and adults) who only have febrile convulsions, regular treatment with epilepsy medicines is not usually required.[epilepsy.org.uk]
  • UCB Pharma SA assumes no responsibility of the views expressed and recommended treatments in these volumes.[epilepsy.com]
  • PPP2R5D, PPT1, PURA, SCN1A, SCN1B, SCN2A, SLC19A3, SLC2A1, SLC6A1, SLC6A8, SLC9A6, SMC1A, SPATA5, STX1B, SYNGAP1, TBC1D24, TCF4, TPP1, UBE3A, WDR45, ZEB2 Clinical Utility: Molecular confirmation of a clinical diagnosis To assist with decisions about treatment[genedx.com]

Prognosis

  • Prognosis Seizures usually remit by mid-childhood (median 11 years). Development is usually normal. Differential diagnosis Febrile seizures.[epilepsy.com]
  • PMID: 11254445 Free PMC Article Prognosis Wu FF, Gordon E, Hoffman EP, Cannon SC J Physiol 2005 Jun 1;565(Pt 2):371-80. Epub 2005 Mar 17 doi: 10.1113/jphysiol.2005.082909.[ncbi.nlm.nih.gov]
  • Prognosis The overall prognosis depends on the exact phenotype within the GEFS spectrum. In patients with mild phenotypes (FS, FS ) seizures often remit by adolescence.[orpha.net]
  • Prognosis The vast majority of febrile seizures are short and harmless. There is no evidence that short febrile seizures cause brain damage.[childneurologyfoundation.org]

Etiology

  • The world’s foremost experts describe the phenotypes and subtypes of myoclonic epilepsies and the underlying molecular defects and summarize cutting-edge advances in molecular genetics that shed new light on the etiologies of these syndromes.[books.google.com]
  • Etiology Purely genetic disorder with profound heterogeneity. Inheritance is generally autosomal dominant with incomplete penetrance, but this may not be the only situation. Two loci are on chromosome 19q (GEFS ) and chromosome 2q (GEFS2).[epilepsy.com]
  • Etiology Dev Period Med 2014 Oct-Dec;18(4):426-31. PMID: 25874779 Wu FF, Gordon E, Hoffman EP, Cannon SC J Physiol 2005 Jun 1;565(Pt 2):371-80. Epub 2005 Mar 17 doi: 10.1113/jphysiol.2005.082909.[ncbi.nlm.nih.gov]
  • Etiology The GEFS phenotype may be caused by mutation in several genes. voltage-gated sodium channel beta-1 subunit gene (SCN1B) (MIM.600235) on 19q13 causes GEFS type 1. SCN1A gene (MIM.182389) on 2q24 causes GEFS type 2.[humpath.com]

Epidemiology

  • EPIDEMIOLOGY The discovery of GEFS postdates many of the classic and extensive epidemiologic studies of childhood epilepsy. The original patients described were from large families, which are undoubtedly quite rare.[clinicalgate.com]
  • The first section of the book introduces the clinical aspects of the science of epileptology with chapters on pathophysiology, genetics, classification, syndromes, epidemiology, etiology, and differential diagnosis.[books.google.com]
  • Página 67 - Socioeconomic characteristics of childhood seizure disorders in the New Haven area: an epidemiologic study ‎ Página 67 - Epilepsy after penetrating head injury. I. Clinical correlates: a report of the Vietnam Head Injury Study.[books.google.es]
  • Summary Epidemiology Prevalence is unknown but hundreds of cases have been described in the literature. Clinical description Phenotypes in patients can be variable, ranging from simple FS to epileptic encephalopathies including MAE and DS.[orpha.net]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiological mechanisms involved are multiplex, including race/gender nutrition, receptors/ion channels, dysgenesis, pharmacokinetics of AEDs, acute illnesses/inflammation and many others.[books.google.com]
  • PATHOPHYSIOLOGY Buy Membership for Pediatrics Category to continue reading. Learn more here Pellock's Pediatric Epilepsy[clinicalgate.com]
  • […] loci have any role in the more common, “simple” FS, with the possible exception of the chromosome 5 locus reported in the Japanese population. 49 Clearly, febrile seizures are an extremely heterogeneous condition with a complicated and, as yet, unclear pathophysiological[adc.bmj.com]

Prevention

  • This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease. He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time.[books.google.de]
  • Collaborative Meta-Analysis of Randomised Trials of Antiplatelet Therapy for Prevention of Death, Myocardial Infarction, and Stroke in High Risk Patients. ‎[books.google.es]
  • Preventive treatment involving daily use of antiseizure medicines is not recommended because of their potential for harmful side effects.[childneurologyfoundation.org]
  • If, however, preventing subsequent febrile seizures is essential, oral diazepam would be the treatment of choice.[emedicine.medscape.com]

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