CLN6‐related continuum phenotype caused by aberrant splicing

CLN6‐related continuum phenotype caused by aberrant splicing

Abstract Neuronal ceroid lipofuscinoses (NCLs) are genetically heterogeneous neurodegenerative disorders, characterized by progressive cognitive and motor decline, epilepsy, visual impairment, and shortened life‐expectancy. CLN6‐related NCLs include both late‐infantile and adult myoclonic form. We r...

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Main Authors: Federica Invernizzi, Barbara Castellotti, Chiara Reale, Celeste Panteghini, Isabel Colangelo, Roberta Solazzi, Francesca Ragona, Lucio Giordano, Jessica Galli, Davide Rossi Sebastiano, Gianluca Marucci, Valeria Cuccarini, Giuseppe Didato, Cinzia Gellera, Barbara Garavaglia, Tiziana Granata, Laura Canafoglia
Format: Article
Language:English
Published: Wiley 2025-02-01
Series:Epilepsia Open
Subjects:
Kufs' disease
neuronal ceroidlipofuscinosis
occipital seizures
photoparoxysmal response
progressive myoclonus epilepsy
Online Access:https://doi.org/10.1002/epi4.13119
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