Associated Papers
Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing.
Sirchia F et al.
Pediatric Neurology, 2026
A Novel Missense Mutation in SLC12A6 Impairs Ion Transport Function of the Protein to Cause Agenesis of the Corpus Callosum With Peripheral Neuropathy.
Ahmad SR et al.
Clinical Genetics, 2025
An Overview of Canine Inherited Neurological Disorders with Known Causal Variants.
Cocostîrc V et al.
Animals : an Open Access Journal From Mdpi, 2023
De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy.
Park J et al.
Journal of Medical Genetics, 2020
Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs.
Van Poucke M et al.
European Journal of Human Genetics : Ejhg, 2019
Physiology of SLC12 transporters: lessons from inherited human genetic mutations and genetically engineered mouse knockouts.
Gagnon KB et al.
American Journal of Physiology. Cell Physiology, 2013
Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum.
Salin-Cantegrel A et al.
The Journal of Biological Chemistry, 2011
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