Article

Metabolic collapse as a mechanism of developmental regression: convergent evidence from Kleefstra syndrome [ 18 F]FDG-PET/CT imaging and Drosophila modelling

2026-08-31

Abstract excerpt

Developmental regression is a severe but poorly understood complication of several neurodevelopmental disorders. In Kleefstra syndrome (KLEFS1), caused by EHMT1 haploinsufficiency, regression often emerges during adolescence or early adulthood and is frequently preceded by marked sleep disturbance. Experimental work implicating EHMT1/G9a in metabolic regulation and stress responses raises the possibility that im...

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Literature Corpus work: 0da30c86-8136-5e46-97bf-fc1af5e0a633
DOI: 10.64898/2026.08.28.747020

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Metabolic collapse as a mechanism of developmental regression: convergent evidence from Kleefstra syndrome [ 18 F]FDG-PET/CT imaging and Drosophila modellingDOI 10.64898/2026.08.28.747020Read

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Metabolic collapse as a mechanism of developmental regression: convergent evidence from Kleefstra syndrome [ <sup>18</sup> F]FDG-PET/CT imaging and <i>Drosophila</i> modelling

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