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Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.
Features include: Bilateral tonic-clonic seizure, Clumsiness, Brain shrinkage (cerebral atrophy), and EEG abnormality and 8 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 7 | Bilateral tonic-clonic seizure, Clumsiness, Brain shrinkage (cerebral atrophy) |
Muscles | 2 | Brain shrinkage (cerebral atrophy), Shrinkage of the cerebellum (cerebellar atrophy) |
CLN8 encodes CLN8 transmembrane ER and ERGIC protein (286 aa). Could play a role in cell proliferation during neuronal differentiation and in protection against cell death
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant is associated with mutations in the CLN8 gene on chromosome 8.
CLN8 is classified as a druggable target with score 7.5.
Genetic testing for CLN8 is available. Testing is considered confirmatory for diagnosis.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for neuronal ceroid lipofuscinosis 8 northern epilepsy variant.
1 publication has been identified in PubMed for neuronal ceroid lipofuscinosis 8 northern epilepsy variant. Research spans Review / Meta-Analysis (100%).
Zhang Y (2025). [PMID: 39925015](https://pubmed.ncbi.nlm.nih.gov/39925015/). *CNS neuroscience & therapeutics*. [Review / Meta-Analysis]
Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 9:45 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center