LOCI FOR IDIOPATHIC GENERALIZED EPILEPSY, MUTATIONS THEREOF AND METHOD USING SAME TO ASSESS, DIAGNOSE, PROGNOSE OR TREAT EPILEPSY

摘要

The present invention relates to epilepsy. More particularly, the present invention relates to idiopathic generalized epilepsy (IGE) and to the identification of three genes mapping to chromosome 2, which show mutations in patients with epilepsy. The invention further relates to nucleic acid sequences, and protein sequences of these loci (SCNA) and to the use thereof to assess, diagnose, prognose or treat epilepsy, to predict an epileptic individual's response to medication and to identify agents which modulate the function of the SCNA. The invention provides screening assays using SCN1A, SCN2A and/or SCN3A which can identify compounds which have therapeutic benefit for epilepsy and related neurological disorders. In a particular embodiment, the invention provides a method for identifying, from a library of compounds, a compound with therapeutic effect on epilepsy or other neurological disorders comprising: providing a screening assay comprising a measurable biological activity of SCN1A, SCN2A or SCN3A protein or gene; contacting this screening assay with a test compound; and detecting if the test compound modulates the biological activity of SCN1A, SCN2A or SCN3A protein or gene; wherein a test compound which modulates the biological activity thereof is a compound with the desired therapeutic effect.