Article

Estimating the Global Market Size for Disease-Modifying Therapies in Epilepsy Caused by Haploinsufficiency

2025-01-22

Abstract excerpt

<h4>Importance</h4> Haploinsufficiency, a condition where a single functional copy of a gene is insufficient to maintain normal physiological function due to a mutation, represents the most prevalent disease mechanism underlying genetic epilepsies, particularly developmental and epileptic encephalopathies (DEEs). Current therapies for these patients primarily address symptoms and fail to alter the disease trajecto...

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Literature Corpus work: 7196b154-42fb-5a90-8c18-e91e692059cd
DOI: 10.1101/2025.01.20.25320871

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