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Lafora disease is a rare form of inherited progressive myoclonus epilepsy caused by mutations in the  EPM2A  gene encoding laforin, or in the  EPM2B  gene, which encodes malin. It is characterized by the presence of polyglucosan inclusion bodies (Lafora bodies) in brain and other tissues. Genetically engineered mice lacking expression of either the laforin ( Epm2a −/−  ) or malin ( Epm2b −/−  ) genes display a number of neurological and behavioral abnormalities that resemble those found in patients suffering from Lafora disease; of these, both  Epm2a −/−   and  Epm2b −/−   mice have shown altered motor activity, impaired motor coordination, episodic memory deficits, and different degrees of spontaneous epileptic activity. In this study, we analyze the sensitivity of  Epm2a −/−   and  Epm2b −/−   mice to the convulsant drug pentylenetetrazol (PTZ), an antagonist of the γ-aminobutyric acid type A (GABA A ) receptor, commonly used to induce epileptic tonic-clonic seizures in laboratory animals. PTZ-induced epileptic activity, including myoclonic jerks and tonic-clonic seizures, was analyzed in 2 age groups of mice comprising representative samples of young adult and aged mice, after administration of PTZ at sub-convulsive and convulsive doses.  Epm2a −/−   and  Epm2b −/−   mice showed a lower convulsive threshold after PTZ injections at sub-convulsive doses. A lower convulsive threshold and shorter latencies to develop epileptic seizures were observed after PTZ injections at convulsive doses. Different patterns of generalized seizures and of discharges were observed in  Epm2a −/−   and  Epm2b −/−   mice.  Epm2a −/−   and  Epm2b −/−   mice present an increased sensitivity to the convulsant agent PTZ that may reflect different degrees of increased GABA A  receptor-mediated hyperexcitability.

Enhanced sensitivity of laforin- and malin-deficient mice to the convulsant agent pentylenetetrazole