Associated Papers
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
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.
Parikh JR et al.
Hgg Advances, 2021
34514437 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel KCTD7 Pathogenic Variants and a Literature Review.
Binaafar S et al.
Developmental Neuroscience, 2021
Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study.
Almontashiri NAM et al.
Scientific Reports, 2020
32523032 (PubMed )
Supplement: 41598_2020_66401_MOESM3_ESM.xlsx › Table_S2
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
Metz KA et al.
Annals of Neurology, 2018
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