Associated Papers
KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.
Yoganathan S et al.
Epilepsia, 2024
KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses.
Wang Y et al.
Science Advances, 2022
35921411 (PubMed )
Supplement: sciadv.abm5578_sm.pdf
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
Metz KA et al.
Annals of Neurology, 2018
Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering.
Markello TC et al.
Molecular Genetics and Metabolism, 2012
Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy.
Burke EA et al.
Journal of Neurogenetics, 0
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