Associated Papers
Expression of genetic peripheral neuropathies in South African children.
Raga SV et al.
Neuromuscular Disorders : Nmd, 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
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM23_ESM.xlsx › Supplementary_Data_20
First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 gene.
Pacheva I et al.
American Journal of Medical Genetics. Part A, 2019
Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.
Mak CC et al.
Npj Genomic Medicine, 2018
30109123 (PubMed )
Supplement: 41525_2018_56_MOESM1_ESM.pdf
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
A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity?
Degerliyurt A et al.
Genetic Counseling (geneva, Switzerland), 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
Mutations affecting GABAergic signaling in seizures and epilepsy.
Galanopoulou AS
Pflugers Archiv : European Journal of Physiology, 2010
HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3.
Salin-Cantegrel A et al.
Human Molecular Genetics, 2008
Distal truncation of KCC3 in non-French Canadian HMSN/ACC families.
Salin-Cantegrel A et al.
Neurology, 2007
Hereditary motor and sensory neuropathy with agenesis of the corpus callosum.
Dupré N et al.
Annals of Neurology, 2003
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
Howard HC et al.
Nature Genetics, 2002
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