Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.
Yoganathan S et al.
Epilepsia, 2024
Calpain activity is negatively regulated by a KCTD7-Cullin-3 complex via non-degradative ubiquitination.
Sharma J et al.
Cell Discovery, 2023
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
Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants.
Smaldone G et al.
Scientific Reports, 2019
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
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
Progressive myoclonic epilepsy with Fanconi syndrome.
Seaby EG et al.
Jrsm Open, 2016
Application of next-generation sequencing technologies in Neurology.
Jiang T et al.
Annals of Translational Medicine, 2014
Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.
Farhan SM et al.
Epilepsia, 2014
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
Lemke JR et al.
Epilepsia, 2012
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.
Kousi M et al.
Journal of Medical Genetics, 2012
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