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Baylor College of Medicine

The Jackson Laboratory

Wayne N Frankel

Kevin P Campbell

Cathleen Marie Lutz

Ricardo Felix

Verity A Letts

Jeffrey L Noebels

Gloria Biddlecome

Gregory A Cox

Disclosed are mammalian nucleic acid sequences encoding a neuronal-specific subunit of a voltage-gated calcium channel. Specifically disclosed are &ggr; , &ggr; and &ggr; subunits. In other aspects, the disclosure relates to expression vectors which encode neuronal-specific subunits, as well as cells containing such vectors. In other aspects, the disclosure relates to antigenic fusion proteins comprising at least a portion of a mammalian neuronal-specific subunit of a voltage-gated calcium channel. Such fusion proteins are useful, for example, in the production of antibodies specifically reactive with the subunits of the invention. The nucleic acid sequences of the invention find application, for example, in screening for compounds which modulate the activity of neuronal voltage-gated calcium channels and also in diagnostic methods for diagnosing the autoimmune disease Lambert-Eaton Syndrome, as well as diagnosing defects in &ggr; subunit genes of a patient with a neuronal disease such as epilepsy. An additional application of the nucleic acid sequences of the invention is in therapeutic methods of treatment for such disorders.

Genes encoding neuronal voltage-gated calcium channel gamma subunits

Disclosed is the identification of a mutation which is responsible for ataxia and epilepsy in a murine model system. More specifically, a mutation has been identified within the Nhe1 gene (also referred to as the Slc9a1 gene) which results in both ataxia and epilepsy. The specific mutation identified is an A to T transition at nucleotide 1639 which creates a premature stop codon. The identification of this mutation enables methods for the detection of clinical disorders associated with a defect in a cation exchanger (e.g., Nhe1).

In vitro method for identifying a clinical disorder associated with Nhe1

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Bar Harbor, ME, United States of America

Wayne N Frankel