disease 2,103 words KG: ent-dise-ef8a1660 2026-03-23
kind:diseasesection:diseasesstate:published
Contents

Progressive Myoclonic Epilepsies (PME)

Disease Info
CLN2 (late-infantile NCL)Caused by *TPP1* mutations; onset age 2–4; seizures, myoclonus, vision loss, cognitive regression
CLN3 (juvenile NCL/Batten disease)Caused by *CLN3* mutations; onset age 5–10; progressive vision loss followed by seizures and dementia
CLN6 and CLN8Late-infantile variants with myoclonus and progressive neurodegeneration
DatabasesOMIMOrphanetClinicalTrialsPubMed

Knowledge Graph