Febrile seizures: traffic slows in the heat.
Febrile seizures, which occur in young children, have long been known to have a major inherited component. Mutations in some genes that encode sodium channel and GABA(A) receptor subunits have been found in a few families affected by febrile seizures. These mutations account only for a minority of cases, and much remains to be learnt about the molecular architecture of febrile seizures. A rare inherited cause--a mutation in the GABA(A) receptor subunit GABRG2 gene--has been recently shown to cause a temperature-dependent intracellular trafficking defect. This is an important step in unravelling the molecular pathogenesis of this common childhood disorder.
Berkovic
Samuel F
SF
Department of Medicine and Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg West, Victoria 3081, Australia. s.berkovic@unimelb.edu.au
Petrou
Steven
S
D001692:Biological Transport / Q000502:physiology; D002648:Child; D006358:Hot Temperature; D006801:Humans; D009154:Mutation / Q000235:genetics*; D021122:Protein Subunits / Q000235:genetics / Q000502:physiology; D011963:Receptors, GABA-A / Q000235:genetics* / Q000502:physiology; D003294:Seizures, Febrile / Q000235:genetics*; D013696:Temperature
D021122:Protein Subunits; D011963:Receptors, GABA-A