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Generalized Epilepsy with Febrile Seizures Plus

JME


Presentation

  • The mutation was present in his mother, aged 25, who had febrile seizures and developed generalized tonic clonic seizures and his sister who had 1 febrile seizure.[ncbi.nlm.nih.gov]
  • The clinical presentation and severity of these epilepsies vary widely, even in people with the same mutation, suggesting the action of environmental or genetic modifiers.[ncbi.nlm.nih.gov]
  • Here, we provide the first report of clinical presentation and mutational analysis of SCN1A gene in 36 Malaysian GEFS patients.[ncbi.nlm.nih.gov]
  • An SNP located 18 bp upstream of the splice-acceptor site for exon 3 was observed in 7 of the 226 patients but was not present in 185 controls, suggesting possible association with a disease mutation.[ncbi.nlm.nih.gov]
  • The others presented with different combinations of GTCS, tonic seizures, atonic seizures, and absences, only in part associated with fever. The age at onset was 2.8 /- 1.3 years.[ncbi.nlm.nih.gov]
Italian
  • We report two Italian families in which the fathers showed febrile seizure plus (FS ), and two sons had severe myoclonic epilepsy of infancy (SMEI).[ncbi.nlm.nih.gov]
  • PURPOSE: We describe seven Italian families with generalized epilepsy with febrile seizures plus (GEFS ), in which mutations of SCN1A, SCN1B, and GABRG2 genes were excluded and compare their clinical spectrum with that of previously reported GEFS with[ncbi.nlm.nih.gov]
  • A mutation in the sodium channel SCN1A was identified in a small Italian family with dominantly inherited generalized epilepsy with febrile seizures plus (GEFS ).[ncbi.nlm.nih.gov]
Asymptomatic
  • All affected individuals who were tested and one asymptomatic individual had a sodium channel mutation of SCN1A, an A-- C transversion at nucleotide 3809 resulting in the substitution of lysine 1270 by threonine in the D3/S2 segment (designated as K1270T[ncbi.nlm.nih.gov]
  • All affected individuals who were tested and one asymptomatic individual had a sodium channel mutation of SCN1A , an A C transversion at nucleotide 3809 resulting in the substitution of lysine 1270 by threonine in the D3/S2 segment (designated as K1270T[neurology.org]
Aspiration
  • The supernatants were aspirated, and the beads were boiled in 300 μl of 0.5% SDS for 5 min to release the immunoprecipitated proteins.[doi.org]
  • 6p21.2 Fasting Hypoglycemia, Type 2 Diabetes Mellitus Obesity GLRA1 glycine receptor, alpha 1 5q33.1 Sporadic Hyperekplexia, Stiff-Person Syndrome, Hyperekplexia, Hyperekplexia, Hereditary 1, Autosomal Dominant Or Recessive, Glra1-Related Hyperekplexia, Aspiration[genecards.weizmann.ac.il]
Suggestibility
  • Although a few candidate disease alleles were identified, the patient survey suggests that SCN1A is not a major contributor to idiopathic generalized epilepsy.[ncbi.nlm.nih.gov]
  • Together, these data suggest that C121Wbeta1 causes subtle effects on channel function and subcellular distribution that bias neurons toward hyperexcitabity and epileptogenesis.[ncbi.nlm.nih.gov]
  • The clinical presentation and severity of these epilepsies vary widely, even in people with the same mutation, suggesting the action of environmental or genetic modifiers.[ncbi.nlm.nih.gov]
  • This locus is the second GEFS locus to be reported, which suggests that this syndrome is genetically heterogeneous.[ncbi.nlm.nih.gov]
  • Our observations are consistent with the genotype-phenotype correlation studies suggesting that mutations in the pore-forming loop of SCN1A can lead to a clinically more severe epileptic syndrome.[ncbi.nlm.nih.gov]
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]

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]
Epileptiform Activity
  • Their father experienced one simple febrile seizure in infancy and two generalized tonic-clonic seizures after head trauma in adulthood, and had generalized epileptiform activity in the electroencephalogram.[ncbi.nlm.nih.gov]
  • Her EEG at 2 years was reported as showing frequent left central epileptiform activity. At 4 years, the EEG was more abnormal with the background predominantly comprising bilateral delta rhythms most prominent over the right central region.[brain.oxfordjournals.org]
  • The EEG at 41 years showed a slow background with bitemporal independent epileptiform activity. The GABRG2 (R43Q) mutation was present.[doi.org]
  • In epilepsy, certain SCN1A mutations promote increased persistent current, and this phenomenon likely contributes directly to epileptiform activity in the brain.[doi.org]

Treatment

  • Nurses caring for patients with seizure disorders require knowledge of the condition, its causes, treatment, and prognosis to better care for and inform their patients.[ncbi.nlm.nih.gov]
  • Management and treatment As most patients with GEFS have a mild phenotype, treatment may not be necessary. Seizure control with antiepileptic drugs is essential in patients with recurrent seizures.[orpha.net]
  • 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]

Prognosis

  • Nurses caring for patients with seizure disorders require knowledge of the condition, its causes, treatment, and prognosis to better care for and inform their patients.[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 Seizures usually remit by mid-childhood (median 11 years). Development is usually normal. Differential diagnosis Febrile seizures.[epilepsy.com]
  • Evidence suggests, however, that they have little connection with cognitive function, so the prognosis for normal neurologic function is excellent in children with febrile seizures. [1] Epidemiologic studies have led to the division of febrile seizures[emedicine.medscape.com]

Etiology

  • Severe myoclonic epilepsy of infancy (SMEI) is an intractable epilepsy of early childhood of unknown etiology. It is often associated with a family history of seizure disorders, but epilepsy phenotypes have not been well described.[ncbi.nlm.nih.gov]
  • Our finding extends the spectrum of SCN1A mutations related to GEFS and further confirms the contribution of the sodium channel genes to the etiology of idiopathic epilepsies. Copyright 2010 Elsevier Ireland Ltd. All rights reserved.[ncbi.nlm.nih.gov]
  • We investigated the roles of SCN1A, SCN1B, and GABRG2 mutations in the etiology of Chinese GEFS families. Genomic deoxyribonucleic acid (DNA) was extracted from peripheral blood lymphocytes of 23 probands and their family members.[ncbi.nlm.nih.gov]
  • This may clarify the etiology underlying GEFS and gives us chances in GEFS screening using FEB1.[elsevier.pt]

Epidemiology

  • 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]
  • Evidence suggests, however, that they have little connection with cognitive function, so the prognosis for normal neurologic function is excellent in children with febrile seizures. [1] Epidemiologic studies have led to the division of febrile seizures[emedicine.medscape.com]
  • Karin Jurkat-Rott, Holger Lerche, Yvonne Weber and Frank Lehmann-Horn, Hereditary Channelopathies in Neurology, Rare Diseases Epidemiology, 10.1007/978-90-481-9485-8_18, (305-334), (2010). Gabrielle Rudolf, Maria P.[doi.org]
  • Epidemiologic studies have led to the division of febrile seizures into 3 groups, as follows: Simple febrile seizures Complex febrile seizures Symptomatic febrile seizures Children with simple febrile seizures are neurologically and developmentally healthy[centogene.com]
Sex distribution
Age distribution

Pathophysiology

  • These data suggest that this specific effect on sodium channel function could be a general mechanism in the pathophysiology of epilepsies caused by mutations in sodium channels in humans.[ncbi.nlm.nih.gov]
  • The fact that many SUDEP cases are found prone in bed suggests that this position plays a role in the pathophysiology.[journal.frontiersin.org]
  • In this study, we have identified several effects of the C121Wβ1 mutation that could contribute to neuronal pathophysiology.[doi.org]
  • Stafstrom, Severe Epilepsy Syndromes of Early Childhood: The Link Between Genetics and Pathophysiology With a Focus on SCN1A Mutations, Journal of Child Neurology, 10.1177/0883073809338152, 24, 8_suppl, (15S-23S), (2009). T.[doi.org]

Prevention

  • prevents proper trafficking of the formed receptor to the membrane.[en.wikipedia.org]
  • 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.com]
  • Collaborative Meta-Analysis of Randomised Trials of Antiplatelet Therapy for Prevention of Death, Myocardial Infarction, and Stroke in High Risk Patients. ‎[books.google.es]
  • Hospital for Sick Children Health A-Z Search a complete list of child health articles expand_more View All Drug A-Z Search a list of articles about medications expand_more View All Learning Hubs Browse a complete list of content groups Healthy Living & Prevention[aboutkidshealth.ca]
  • If, however, preventing subsequent febrile seizures is essential, oral diazepam would be the treatment of choice.[emedicine.medscape.com]

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