Associated Papers
Case Report: Compound heterozygous KCTD7 variants in two siblings presenting with myoclonic epilepsy and ataxia.
Song J et al.
Frontiers in Neuroscience, 2025
Identification of genetic causes in children with unexplained epilepsy based on trio-whole exome sequencing.
Chengyan L et al.
Clinical Genetics, 2024
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
Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.
Zeevi DA et al.
Molecular Genetics & Genomic Medicine, 2021
34288589 (PubMed )
Supplement: MGG3-9-e1756-s001.xlsx › Table_S1
Functional Analysis of a Novel CLN5 Mutation Identified in a Patient With Neuronal Ceroid Lipofuscinosis.
Luo S et al.
Frontiers in Genetics, 2020
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
Metz KA et al.
Annals of Neurology, 2018
The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases.
Ebrahimi-Fakhari D et al.
Movement Disorders Clinical Practice, 0
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