2022 article

A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment

Woelfel, C., Meurs, K., Friedenberg, S., DeBruyne, N., & Olby, N. J. (2022, July 11). JOURNAL OF VETERINARY INTERNAL MEDICINE.

By: C. Woelfel n, K. Meurs n, S. Friedenberg*, N. DeBruyne n & N. Olby n

author keywords: chloride channel; electromyography; nondystrophic myotonia; phenytoin
MeSH headings : Animals; Cat Diseases / diagnosis; Cat Diseases / drug therapy; Cat Diseases / genetics; Cats; Chloride Channels / genetics; Electromyography / veterinary; Exons; Male; Mutation; Myotonia Congenita / diagnosis; Myotonia Congenita / drug therapy; Myotonia Congenita / genetics; Myotonia Congenita / veterinary
TL;DR: Phenytoin treatment was initiated at 3 mg/kg po q24 h and resulted in long‐term improvement and is reported for the first time its successful treatment. (via Semantic Scholar)
UN Sustainable Development Goal Categories
3. Good Health and Well-being (Web of Science; OpenAlex)
Source: Web Of Science
Added: July 18, 2022

Abstract