The Jackson Laboratory

Baylor College of Medicine

Cathleen Marie Lutz

Wayne N Frankel

Jeffrey L Noebels

Alan Sawyer

Aamir Zuberi

Gregory A Cox

Provided herein, in some embodiments, are anti-N-glycanase 1 antibodies and methods of use.

Anti-NGly-1 antibodies and methods of use

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

Cathleen Marie Lutz