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Article

Assessment of Adaptive Functioning and the Impact of Seizures in KBG Syndrome.

American journal of medical genetics. Part A - 1 Feb 2025

Sarino Kathleen P, Guo Lily, Yi Edward, Park Jiyeon, Kierzkowska Ola, Carter Drake, Marchi Elaine, Lyon Gholson J

Abstract excerpt

This study aimed to examine the adaptive functioning status and the impact of epileptic seizures on neurocognitive outcomes in KBG syndrome, a rare genetic neurodevelopmental disorder characterized by pathogenic variants in ANKRD11. A single clinician interviewed individuals and families with genetically confirmed cases of KBG syndrome. Trained professionals also conducted assessments using the Vineland-3...

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Identifiers

PMID: 39364636
DOI: 10.1002/ajmg.a.63896

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