Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
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
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
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
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
The molecular biology of genetic-based epilepsies.
Deng H et al.
Molecular Neurobiology, 2014
The KCTD family of proteins: structure, function, disease relevance.
Liu Z et al.
Cell & Bioscience, 2013
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
Staropoli JF et al.
American Journal of Human Genetics, 2012
Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy.
Krabichler B et al.
Annals of Human Genetics, 2012
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.
Kousi M et al.
Journal of Medical Genetics, 2012
Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.
Van Bogaert P et al.
Annals of Neurology, 2007
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