Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Case Report: Compound heterozygous KCTD7 variants in two siblings presenting with myoclonic epilepsy and ataxia.
Song J et al.
Frontiers in Neuroscience, 2025
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Majethia P et al.
Clinical Genetics, 2024
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
KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature.
Narayanan DL et al.
Clinical Dysmorphology, 2022
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 toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.
Zastrow DB et al.
Journal of Genetic Counseling, 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
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 KCTD family of proteins: structure, function, disease relevance.
Liu Z et al.
Cell & Bioscience, 2013
Bioinformatic perspectives in the neuronal ceroid lipofuscinoses.
Kmoch S et al.
Biochimica Et Biophysica Acta, 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
Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy.
Burke EA et al.
Journal of Neurogenetics, 0