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Article

Repetitive Sleep Starts in Allan-Herndon-Dudley Syndrome.

Pediatric neurology - 1 Oct 2023

Solazzi Roberta, Nanni Giuliana, Esposito Silvia, Estienne Margherita, Freri Elena, Zibordi Federica, Canafoglia Laura, Castellotti Barbara, Granata Tiziana

Abstract excerpt

Allan-Herndon-Dudley syndrome (AHDS) is caused by mutations in the SLC16A2 gene, encoding for the monocarboxylate transporter 8 (MCT8). Central hypothyroidism and chronic peripheral thyrotoxicosis result in a severe phenotype, mainly characterized by poor growth, intellectual disability, spastic tetraparesis, and movement disorders, including paroxysmal ones (startle reaction and paroxysmal dyskinesias). Seizures...

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PMID: 37542971
DOI: 10.1016/j.pediatrneurol.2023.06.012

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