GENETIC FACTOR IN ETIOLOGY OF FEBRILE SEIZURES

subunit febrile


GENETIC FACTOR IN ETIOLOGY OF FEBRILE SEIZURES
Investigators from Istanbul, Turkey, studied R43Q mutations of the gammaaminobutyric acid A receptor (GABRG2) gene, located on the long arm of chromosome 5, in 44 children with febrile seizure (FS) and 49 without.FSs were simple in 28 (63.6%) and complex in 16 (36.4%).Heterogeneous R43Q mutation of gamma-aminobutyric acid A receptor g2 subunit occurred significantly more often in the patient group (36%) than in the control group (2%); p<0.001.The homozygous mutation carrier status was not different in the 2 groups.Family history of febrile convulsion and epilepsy was significantly higher in the study group than in controls (p<0.01

ENVIRONMENTAL FACTORS ASSOCIATED WITH FEBRILE SEIZURES
Investigators from Taichung, Taiwan, conducted a nationwide population-based retrospective study of the association between febrile seizure (FS) and allergic rhinitis.During an average 6.7 years follow-up of 1304 children with FSs, the incidence of allergic rhinitis in the FS group was higher, and after 11 years, the allergic rhinitis incidence was 4% higher than controls (p<0.0001).Risk of allergic rhinitis in the FS group is 1.21 times higher than in the control group, and the risk is even higher (18.9) in patients with more than 3 FS-related medical visits.COMMENTARY.Fever and height of the body temperature as a measure of the FS threshold have an essential role in the mechanism of the FS.The cause of fever is almost always viral, most frequently HHV-6 in the United States and influenza in Japan.Some viruses have neurotropic properties, leading to the theory of a transient encephalitic or encephalopathic process in some cases.Additional factors involved in the mechanism of the FS include a genetic susceptibility, age and maturation, and cytokine and immune response to infection [1].The association of allergic rhinitis and FS in the present study was significantly higher in children 0.5 to 2 yrs of age (the age of susceptibility to FS), of male sex, and with frequent FS-related clinic visits.Children with FS had a higher association with other atopic comorbidities, including asthma (8.08% vs 5.62%, p=0.006) [2].
Allergies and immune reactions are proposed as factors in the etiology of FS [3].In 1953, Dees, reporting on EEG observations in so-called "allergic epilepsy," emphasized the significance of occipital dysrhythmia in children with allergies complicated by convulsions [4].Allergic disorders may also increase the risk of ADHD [5], and the risk of ADHD is increased in children with FS [6].A significant association between proinflammatory cytokine, IL-1B, and both ADHD and FS may be a link in the mechanism of these disorders [6].

SEIZURE DISORDERS IV METHYLPREDNISOLONE FOR INTRACTABLE EPILEPSY
Investigators at King Abdulaziz University, Jeddah, Saudi Arabia, report their experience with IV pulse methylprednisolone in the treatment of children with severe drug-resistant epilepsy.Patients with infantile spasms, progressive degenerative, or metabolic disorders were excluded.Of 17 children aged 2-14 (mean 5.3) years, 88% had daily seizures and 13 (76%) had been admitted previously with status epilepticus.Cognitive and motor deficits were recognized in 82%.The epilepsy was cryptogenic in 47% and seizures were mixed in 41% (Lennox Gastaut in 4 (23%) and Doose syndrome in 2 (12%)).EEG showed focal or multifocal epileptiform discharges in 7 (41%) and generalized epileptiform discharges in 10 (59%).IV methylprednisolone 15 mg/kg/day, divided every 6 hours for 3 days was followed by oral prednisolone at 1-1.2 mg/kg/day once am for 1 week, then weaned slowly over 2 to 8 weeks (mean 3 wks).After followup for 6-24 months (mean 18), 6 (35%) became completely seizure free but 3 relapsed later, and 10 (59%) were improved.Those with mixed seizures were more likely to have a favorable response than those with one seizure type.No major side effects were noted, and 35% had improved alertness and appetite.(Almaabdi KH, Alshehri RO, Althubiti AA, et al.Intravenous methylprednisolone for intractable childhood epilepsy.Pediatr Neurol 2014 Apr;50(4):334-6).
COMMENTARY.A trial of add-on steroid therapy may be effective in children with intractable seizures of mixed type, apart from those with infantile spasms.Multiple Both disorders have similar cytokine profiles and viral infection association.(Lin W-Y, Muo C-H, Ku Y-C, Sung F-C, Kao C-H.Increased association between febrile convulsion and allergic rhinitis in children: a nationwide population-based retrospective cohort study.Pediatr Neurol 2014 Apr;50(4):329-33).