Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/9389
Title: Genetics of the epilepsies.
Austin Authors: Berkovic, Samuel F ;Scheffer, Ingrid E 
Affiliation: Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
Issue Date: 2001
Publication information: Epilepsia 2001; 42 Suppl 5: 16-23
Abstract: Recent molecular insights into the human idiopathic epilepsies have suggested the central role of ligand-gated and voltage-gated ion channels in their etiology. So far, genes coding for sodium and potassium channel subunits as well as a nicotinic cholinergic receptor subunit have been identified for mendelian idiopathic epilepsies. In vitro and in vivo studies of mutations demonstrate functional changes, allowing new insights into mechanisms underlying hyperexcitability. Similarly, spontaneous murine epilepsy models have been associated with calcium channel molecular defects. The major challenge before us in understanding the genetics of the epilepsies is to identify genes for common forms of epilepsy following complex inheritance. Once such genes are discovered, the gene-gene-environmental interactions producing specific epilepsy syndromes can be explored.
URI: http://ahro.austin.org.au/austinjspui/handle/1/9389
DOI: 10.1046/j.1528-1157.2001.0420s5016.x
URL: https://pubmed.ncbi.nlm.nih.gov/11887962
Type: Journal Article
Subjects: Animals
Calcium Channels.genetics
Disease Models, Animal
Epilepsies, Partial.genetics
Epilepsy.genetics
Epilepsy, Generalized.genetics
Humans
Ion Channels.genetics
Mice
Mice, Neurologic Mutants
Molecular Biology
Mutation.genetics
Seizures, Febrile.genetics
Appears in Collections:Journal articles

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