University of Utah Research Foundation

Johns Hopkins University

The United States of America, As Represented by the Secretary, Department of Health and Human Services

Baylor College of Medicine

Other

Nanda A. Singh

Mark F. Leppert

Carole Charlier

Nanda A Singh

Mark F Leppert

Michael C Dean

Rando L Allikmets

James R Lupski

Jeremy Nathans

Philip M Smallwood

Noah F Shroyer

Richard A Lewis

Kent L Anderson

Yixin Li

Amir Rattner

Hui Sun

Described are mutant Na1.7 sodium channel alpha-subunits and nucleic acid sequences encoding such mutants. Further described are methods for characterizing a nucleic acid sequence that encodes a Na1.7 sodium channel alpha-subunit, methods for determining a Na1.7 haplotype, methods for determining a subject's predisposition to a neurologic disorder associated with a sodium channel mutation, and methods of identifying a compound that modulates mutant Na1.7 sodium channels. Other materials, compositions, articles, devices, and methods relating to mutant Na1.7 sodium channels are also described herein.

Mutant sodium channel Nav1.7 and methods related thereto

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.

KCNQ2 and KCNQ3&#x2014;potassium channel genes which are mutated in benign familial neonatal convulsions (BFNC) and other epilepsies

The present invention provides nucleic acid and amino acid sequences of an ATP binding cassette transporter and mutated sequences thereof associated with macular degeneration. Methods of detecting agents that modify ATP-binding cassette transporter comprising combining purified ATP binding cassette transporter and at least one agent suspected of modifying the ATP binding cassette transporter an observing a change in at least one characteristic associated with ATP binding cassette transporter. Methods of detecting macular degeneration is also embodied by the present invention.

Methods of gene therapy using nucleic acid sequences for ATP-binding cassette transporter

Described are mutant Na1.7 sodium channel alpha-subunits and nucleic acid sequences encoding such mutants. Further described are methods for characterizing a nucleic acid sequence that encodes a Na1 sodium channel alpha-subunit, methods for determining a Na1.7 haplotype, methods for determining a subject's predisposition to a neurologic disorder associated with a sodium channel mutation, and methods of identifying a compound that modulates mutant Na1.7 sodium channels. Other materials, compositions, articles, devices, and methods relating to mutant Na1.7 sodium channels are also described herein.

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Methods of screening and diagnostics using ATP-binding cassette transporter

Nucleic acid and amino acid sequences for ATP-binding cassette transporter and methods of screening for agents that modify ATP-binding cassette transporter

KCNQ2 and KCNQ3-potassium channel genes which are mutated in benign familial neonatal convulsions (BFNC) and other epilepsies

Growing community of inventors

Heber City, UT, United States of America

Nanda A Singh