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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Bibliographic Details

Published in:	Epilepsia Open
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
Subjects:	Kufs' disease neuronal ceroidlipofuscinosis occipital seizures photoparoxysmal response progressive myoclonus epilepsy
Online Access:	https://doi.org/10.1002/epi4.13119