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]

present generalized SW (sleep) NA normal III:5 6 1 y / still present GTC / 5 1 y / still present FoS / 24 FS & FoS VPA / 2 y ‐ still present generalized SW (sleep) normal (MRI) normal II:2 48 no neonatal GTC / several BNC no NA NA normal II:4 48 8 mo [onlinelibrary.wiley.com]

• 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]

• 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]

[…] 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]

An extensive medical workup is often not needed, provided that possible serious CNS infection is considered. There is a great journey of knowledge of FS occurring in the area of advanced genetic and functional studies. [hindawi.com]

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]

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]

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]

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]

This may clarify the etiology underlying GEFS and gives us chances in GEFS screening using FEB1. [elsevier.pt]

Sardjito Hospital, Yogyakarta, Central Java Surini Yusoff Department of Genetic Epidemiology, Kobe University Graduate School of Medicine, Kobe Indra SAri Kusuma Harahap Department of Genetic Epidemiology, Kobe University Graduate School of Medicine, [paediatricaindonesiana.org]

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]

Tsuboi T (1984) Epidemiology of febrile and afebrile convulsions in children in Japan. Neurology 34: 175-181. Berg AT, Shinnar S (1994) The contributions of epidemiology to the understanding of childhood seizures and epilepsy. [omicsonline.org]

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]

This study characterized phenotypes biologically, which may be helpful in understanding the pathophysiologic basis, and further in management of the disease. Epilepsia 51:1669-1678(2010) [PubMed] [Europe PMC] [uniprot.org]

These insults share common pathophysiological pathways involving innate immune activation including neuroinflammation, which is proposed to play a critical role in epileptogenesis. [unboundmedicine.com]

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]

Continuous sodium valproate or phenobarbitone in the prevention of “simple” febrile convulsions. Arch Dis Child.1980;55 (3):171– 174 Camfield PR, Camfield CS, Tibbles JA. Carbamazepine does not prevent febrile seizures in phenobarbital failures. [pediatrics.aappublications.org]

Collaborative Meta-Analysis of Randomised Trials of Antiplatelet Therapy for Prevention of Death, Myocardial Infarction, and Stroke in High Risk Patients. ‎ [books.google.es]

Anti-epileptic therapy (Phenobarbitone/Valproate), either intermittent or continuous, can prevent recurrences of febrile seizure but does not prevent subsequent epilepsy. [indianpediatrics.net]

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]