Associated Papers
KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.
Yoganathan S et al.
Epilepsia, 2024
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
The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients.
Vairo FP et al.
Molecular Genetics and Metabolism Reports, 2017
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