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
Chromosomal microarray and exome sequencing in unexplained early infantile epileptic encephalopathies in a highly consanguineous population.
Turkdogan D et al.
The International Journal of Neuroscience, 2023
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
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
Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel KCTD7 Pathogenic Variants and a Literature Review.
Binaafar S et al.
Developmental Neuroscience, 2021
Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders.
Mastrangelo M et al.
European Journal of Medical Genetics, 2019
Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants.
Smaldone G et al.
Scientific Reports, 2019
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
Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.
Moen MN et al.
Brain : a Journal of Neurology, 2016
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
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.
Kousi M et al.
Journal of Medical Genetics, 2012
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