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Last Updated: September 28, 2020

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Patent: 6,413,719

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Summary for Patent: 6,413,719
Title: KCNQ2 and KCNQ3-potassium channel genes which are mutated in benign familial neonatal convulsions (BFNC) and other epilepsies
Abstract: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 found in a separate BFNC family in which the mutation had been localized to chromosome 8. A missense mutation was found in this gene in perfect cosegregation with the BFNC phenotype in this latter family. This demonstrates that defects in potassium channels can cause epilepsy. Furthermore, some members of one of the BFNC families with a mutation in KCNQ2 also exhibited rolandic epilepsy and one individual with juvenile myoclonic epilepsy has a mutation in an alternative exon of KCNQ3.
Inventor(s): Singh; Nanda A. (Heber City, UT), Leppert; Mark F. (Salt Lake City, UT), Charlier; Carole (Sprimont, BE)
Assignee: University of Utah Research Foundation (Salt Lake City, UT)
Application Number:09/177,650
Patent Claims:see list of patent claims

Details for Patent 6,413,719

Applicant Tradename Biologic Ingredient Dosage Form BLA Number Approval Date Patent No. Assignee Estimated Patent Expiration Status Orphan Source
Schering INTRON A interferon alfa-2b VIAL 103132 001 1986-06-04   Start Trial University of Utah Research Foundation (Salt Lake City, UT) 2017-10-24 RX search
Schering INTRON A interferon alfa-2b VIAL 103132 002 1986-06-04   Start Trial University of Utah Research Foundation (Salt Lake City, UT) 2017-10-24 RX search
Schering INTRON A interferon alfa-2b VIAL 103132 003 1986-06-04   Start Trial University of Utah Research Foundation (Salt Lake City, UT) 2017-10-24 RX search
>Applicant >Tradename >Biologic Ingredient >Dosage Form >BLA >Number >Approval Date >Patent No. >Assignee >Estimated Patent Expiration >Status >Orphan >Source

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