Scn1A knockout mouse-a genetic animal model for human epilepsy
Introduction Epilepsy is one of the most common neurological disorders. Its pathophysiology is poorly understood and the available pharmacotherapies are effective only in a fraction of patients with frequent adverse side effects. Severe myoclonic epilepsy of infancy (SMEI), also known as the Dravet syndrome, is caused by mutations that inactivate one of the alleles of the SCN1A gene encoding the sodium channels Nav1.1. Children with SMEI have seizures during the first year of life that ultimately cause psychomotor delay, cognitive impairment and ataxia. The patients have unfavorable long-term outcome owing to ineffective antiepileptic drug therapy. Researchers at the University of Washington have replicated the human SMEI disease condition in knockout mice for SCN1A. Technology description Scn1A knockout mouse is one of the few, if not the only, genetic animal model in which the heterozygous condition of the disease gene causes epilepsy. The severity of seizures in different SMEI patients is known to be highly variable, what can also be observed in Scn1A knockout mice from different strains. Together with the variable penetrance of the epileptic phenotype, the Scn1A knockout mouse model largely replicates the human SMEI disease condition. Business opportunity The Scn1A knockout mouse is a valuable tool for genetic screening of epilepsy modifier genes. Identification of specific modifier genes that affect and modify the severity of epilepsy of SMEI may have general applications in other forms of epilepsy diseases, and may be additional targets for novel anti-epileptic therapies. Furthermore, acute testing of potential anti-epileptic therapies by monitoring seizures in these mice would give an excellent test of drug efficacy in reducing seizure frequency over a defined recording period. Related Publication(s)
Nat Neurosc 2006; 9(9):1142-1149.
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