Kcnq2 and kcnq3-potassium channel genes which are mutated in benign familial neonatal convulsions (bfnc) and other epilepsies
CA 2712809 C · Owner: University Of Utah Research Foundation · Inventors: Charlier, Carole; Leppert, Mark F.; Singh, Nanda A.
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Generalized idiopathic epilepsies (IGE) cause 40% of all seizures and commonly have a genetic basis. One type of IGE is Benign Familial Neonatal Convulsions (BFNC) a dominantly inherited disorder of newborns. A submicroscopic deletion of chromosome 20q13.3 which co-segregates with seizures in a BFNC family has been identified. Characterization of cDNAs spanning the deleted region identified a novel voltage-gated potassium channel KCNQ2, which belongs to a new KCNQ1-like class of potassium channels. Nine other BFNC probands were shown to have KCNQ2 mutations including three missense mutations three frameshifts, two nonsense mutations and one splice site mutation. A second gene KCNQ3, was …
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Listed from its CIPO record in Patent Yard's archive of Canadian patents past their term. Its claims, description and drawings are in the CIPO record and on Google Patents, and the Claude kit works from them.
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- Filed October 23, 1998 and granted April 2, 2019. A Canadian patent filed from October 1, 1989 lasts 20 years from filing, so its term ended October 23, 2018.
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