Article
A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease.
Arquivos de neuro-psiquiatria - 1 May 2024
Lourenço Charles Marques, Sallum Juliana Maria Ferraz, Pereira Alessandra Marques, Girotto Paula Natale, Kok Fernando, Vilela Daniel Reda Fenga, Barron Erika, Pessoa André, Oliveira Bibiana Mello de
Abstract excerpt
BACKGROUND: Neuronal ceroid lipofuscinoses (NCL) are a group of autosomal recessive, inherited, lysosomal, and neurodegenerative diseases that causes progressive dementia, seizures, movement disorders, language delay/regression, progressive visual failure, and early death. Neuronal ceroid lipofuscinosis type 2 (CLN2), caused by biallelic pathogenic variants of the TPP1 gene, is the only NCL with an approved...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.