Associated Papers
A FAM8A1 frameshift variant is associated with REM sleep behavior disorder, urinary retention, and mydriasis in Russian Blue cats.
Stee K et al.
Animal Genetics, 2025
Heterozygous KCNJ10 Variants Affecting Kir4.1 Channel Cause Paroxysmal Kinesigenic Dyskinesia.
Huang X et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture.
Meadows JRS et al.
Genome Biology, 2023
37582787 (PubMed )
Supplement: 13059_2023_3023_MOESM1_ESM.xlsx › Table_S16
Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a KCNJ10 missense variant.
Stee K et al.
Journal of Veterinary Internal Medicine, 2023
Deletion of the SELENOP gene leads to CNS atrophy with cerebellar ataxia in dogs.
Christen M et al.
Plos Genetics, 2021
Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance.
Nadella RK et al.
Human Genomics, 2019
Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs.
Van Poucke M et al.
European Journal of Human Genetics : Ejhg, 2019
Novel KCNJ10 Compound Heterozygous Mutations Causing EAST/SeSAME-Like Syndrome Compromise Potassium Channel Function.
Zhang H et al.
Frontiers in Genetics, 2019
Novel mutation in the KCNJ10 gene in three siblings with seizures, ataxia and no electrolyte abnormalities.
Al Dhaibani MA et al.
Journal of Neurogenetics, 2018
A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2).
Mauri N et al.
G3 (bethesda, Md.), 2017
28620085 (PubMed )
Supplement: 2729TableS1.pdf
A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1).
Mauri N et al.
G3 (bethesda, Md.), 2017
The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs.
Van Poucke M et al.
European Journal of Human Genetics : Ejhg, 2017
Phenotypic and genetic aspects of hereditary ataxia in dogs.
Stee K et al.
Journal of Veterinary Internal Medicine, 0
Generalized myokymia, or neuromyotonia, or both in dogs with or without spinocerebellar ataxia.
Vanhaesebrouck A et al.
Journal of Veterinary Internal Medicine, 0
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