20.500.12556/DiRROS-29379 Protein aggregation in progressive myoclonus epilepsies and related syndromes For this review paper, data on protein misfolding and aggregation in progressive myoclonus epilepsies and some developmental encephalopathies are gathered. There is evidence that in some cases of monogenic epilepsies, misfolding of the mutated protein takes place, often leading to protein aggregation. On one hand, protein aggregation reduces the amount of protein and its activity; on the other, it exerts generic toxicity to neurons. Understanding the molecular causes due to loss of normal function and gain of toxic function of the mutated aggregate-prone proteins is important to obtain new therapies. By observing the symptomatology of progressive and developmental epileptic syndromes, one can derive some conclusions about the relevance of protein misfolding and aggregation in the picture. A plausible view seems that the most severe symptoms of dementia, behavioral and psychiatric symptoms, are linked to protein aggregation and downstream effects on cellular degradation and energy systems. Finally, I discuss the potential of targeting the proteostasis network to develop novel anti-seizure and neuroprotective therapies. neurodegeneration protein aggregation protein misfolding progressive myoclonus epilepsies developmental ecephalopaties nevrodegeneracija agregacija beljakovin napačno zvitje proteina encefalopatije true false true Open Exploration Publishing ZDA Angleški jezik Slovenski jezik © The Author(s) 2026. Neznano 2026-05-13 15:30:16 2026-05-13 15:30:17 2026-05-14 03:45:53 0000-00-00 00:00:00 2026 0 0 Nasl. z nasl. zaslona; Opis vira z dne 11. 5. 2026; str. 1-13 Vol. 5, [article no.] 1006136 8 May 2026 0000-00-00 Zaloznikova Objavljeno NiDoloceno 2026-02-13 2026-03-30 2026-05-08 577 2834-5347 10.37349/en.2026.1006136 277707267 https://www.explorationpub.com/Journals/en/Article/1006136 1 e4be69b4-4ecf-11f1-8a5a-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=44013 RAZ_Zerovnik_Eva_2026.pdf RAZ_Zerovnik_Eva_2026.pdf 1 D01DB8B3CA0FFF755356093AAF153BAA d26d75a94bf11acc53126338cbb64fda9a2ca7585aff29e7db15ac71ec98a27e 273594ef-4ed0-11f1-8a5a-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=44014 Institut Jožef Stefan 0 0 0