Article

Novel Cln8 p.R24G mouse line replicates major clinical features of Northern epilepsy

2025-12-05

Abstract excerpt

<h4>Rationale</h4> Northern epilepsy belongs to a group of genetically diverse lysosomal storage diseases, the neuronal ceroid lipofuscinoses (NCLs). A characteristic feature of NCL pathology is the accumulation of autofluorescent ceroid lipofuscin in the central nervous system. Northern epilepsy is a late-infantile-onset disease. Patients develop normally until 5–10 years old, when they first present with genera...

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Literature Corpus work: 0b91595b-53bf-5f39-9175-587a2b9f7fe8
DOI: 10.64898/2025.12.02.690107

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