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.
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)
open access via www.ncbi.nlm.nih.gov (repository)
UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science; OpenAlex)
Source: Web Of Science
Added: July 18, 2022
AbstractCase DescriptionA 10‐month‐old castrated male domestic longhair cat was evaluated for increasing frequency of episodic limb rigidity.Clinical FindingsThe cat presented for falling over and lying recumbent with its limbs in extension for several seconds when startled or excited. Upon examination, the cat had hypertrophied musculature, episodes of facial spasm, and a short‐strided, stiff gait.DiagnosticsElectromyography (EMG) identified spontaneous discharges that waxed and waned in amplitude and frequency, consistent with myotonic discharges. A high impact 8‐base pair (bp) deletion across the end of exon 3 and intron 3 of the chloride voltage‐gated channel 1 (CLCN1) gene was identified using whole genome sequencing.Treatment and OutcomePhenytoin treatment was initiated at 3 mg/kg po q24 h and resulted in long‐term improvement.Clinical RelevanceThis novel mutation within the CLCN1 gene is a cause of myotonia congenita in cats and we report for the first time its successful treatment.