Associated Papers
KCTD7-related progressive myoclonic epilepsy: Clinical and genetic characterization of six Indian patients and review of literature.
Sangeeth TA et al.
Seizure, 2026
Genetic spectrum of neuronal ceroid lipofuscinosis & its genotype-phenotype correlation -A single centre experience of 56 cases.
Thuppanattumadam Ananthasubramanian S et al.
Journal of the Neurological Sciences, 2025
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
KCTD: A new gene family involved in neurodevelopmental and neuropsychiatric disorders.
Teng X et al.
Cns Neuroscience & Therapeutics, 2019
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
Metz KA et al.
Annals of Neurology, 2018
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