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Human Molecular Genetics, 1999, Vol. 8, No. 10 1907-1912
© 1999 Oxford University Press

Review

Ataxic mouse mutantsand molecular mechanisms of absence epilepsy

Colin F. Fletcher and WayneN. Frankel1,a

MGL, ABL-BRP, NCI–Frederick Cancer Research andDevelopment Center, Frederick, MD, USA and 11The Jackson Laboratory, 600 Main Street,Bar Harbor, ME 04609, USA

ABSTRACT

Mouse genetic models for common human diseases havebeen studied for most of the 20th century. Although many polygenicstrain differences and spontaneous single gene mutants have beenextensively characterized over the years, knowing their innermostsecrets ultimately requires the identity of the mutated genes. One groupof neurological mutants, detected initially due to cerebellar dysfunction,was identified as models for epilepsy when they were unexpectedlyfound to have spike-wave seizures associated with behavioral arrest, acentral feature of absence or petit-mal epilepsy. A further surprisewas that recently identified defective genes encode different subunitsof voltage-gated Ca2+ channels (VGCCs), implyingcommon seizure mechanisms. In this review we first consider thesespontaneous mutants with VGCC defects in the context of other mousemodels for epilepsy. Then, from the new wave of genetic and functionalstudies of these mutants we discuss their prospects for yieldinginsight into the molecular mechanisms of epilepsy.

FOOTNOTES

a Towhom correspondence should be addressed. Tel: +1 207 2886354; Fax: +1 207 288 6077; Email: wnf{at}jax.org


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