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developmental epileptic encephalopathy

Rare chromosome reshuffling leads to severe complex form of epilepsy

February 18, 2025 5q14.3 microdeletion syndrome, chromosome reshuffling, chromothripsis, clinical diagnosis, developmental epileptic encephalopathy, epilepsy, Lennox-Gastaut syndrome, Research

Although it’s more commonly found in cancer, chromosome reshuffling is increasingly identified in neurodevelopmental disorders.

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