Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/10192
Title: Febrile seizures: traffic slows in the heat.
Authors: Berkovic, Samuel F;Petrou, Steven
Affiliation: s.berkovic@unimelb.edu.au
Department of Medicine and Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg West, Victoria 3081, Australia
Issue Date: 10-Jul-2006
Citation: Trends in Molecular Medicine 2006; 12(8): 343-4
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.
Internal ID Number: 16829199
URI: http://ahro.austin.org.au/austinjspui/handle/1/10192
DOI: 10.1016/j.molmed.2006.06.005
URL: http://www.ncbi.nlm.nih.gov/pubmed/16829199
Type: Journal Article
Subjects: Biological Transport.physiology
Child
Hot Temperature
Humans
Mutation.genetics
Protein Subunits.genetics.physiology
Receptors, GABA-A.genetics.physiology
Seizures, Febrile.genetics
Temperature
Appears in Collections:Journal articles

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