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 alpha1I subunit isoforms of a voltage-gated calcium channel. Specifically disclosed are novel variants of the alpha1I subunit designated herein as alpha1I-1 and alpha1I-2. In other aspects, the disclosure relates to expression vectors which encode the novel subunits of the invention, as well as cells containing such vectors. Antibodies specific for each of the variant subunits are also provided. The nucleic acid sequences of the invention find application, for example, 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, sleep disorders and the autoimmune disease Lambert-Eaton Syndrome. Diagnosing defects in alpha1I subunit genes of a patient with a neuronal disease such as epilepsy are also included. An additional application of the nucleic acid sequences of the invention is in therapeutic methods of treatment for alpha1I subunit mediated disorders.