Article
CLN6-related continuum phenotype caused by aberrant splicing.
Epilepsia open - 1 Feb 2025
Invernizzi Federica, Castellotti Barbara, Reale Chiara, Panteghini Celeste, Colangelo Isabel, Solazzi Roberta, Ragona Francesca, Giordano Lucio, Galli Jessica, Rossi Sebastiano Davide, Marucci Gianluca, Cuccarini Valeria, Didato Giuseppe, Gellera Cinzia, Garavaglia Barbara, Granata Tiziana, Canafoglia Laura
Abstract excerpt
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 report a 21-year-old patient, with mild developmental delay, who developed occipital seizures at 14 years, and subsequently...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.