NUCLEIC ACID MOLECULES ENCODING NOVEL HUMAN LOW-VOLTAGE ACTIVATED CALCIUM CHANNEL PROTEINS, DESIGNATED - ALPHA 1I-1 AND ALPHA 1I-2, ENCODED PROTEINS AND METHODS OF USE THEREOF

摘要

Disclosed are mammalian nucleic acid sequences encoding .alpha.1I subunitisoforms of a voltage-gated calcium channel. Specifically disclosed are novelvariants of the .alpha.1I subunit designated herein as .alpha.1I-1 and.alpha.1I-2. In other aspects, the disclosure relates to expression vectorswhich encode the novel subunits of the invention, as well as cells containingsuch vectors. Antibodies specific for each of the variant subunits are alsoprovided. The nucleic acid sequences of the invention find application, forexample, in screening for compounds which modulate the activity of voltage-gated calcium channels and also in diagnostic methods for diagnosing various T-type channel mediated disorders , e.g., epilepsy, cancer, pain, sleepdisorders and the autoimmune disease Lambert-Eaton Syndrome. Diagnosingdefects in .alpha.1I subunit genes of a patient with a neuronal disease suchas epilepsy are also included. An additional application of the nucleic acidsequences of the invention is in therapeutic methods of treatment for.alpha.1I subunit mediated disorders.