Febrile seizures: traffic slows in the heat |
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Authors: | Berkovic Samuel F Petrou Steven |
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Institution: | Department of Medicine and Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg West, Victoria 3081, Australia. s.berkovic@unimelb.edu.au |
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Abstract: | 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. |
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