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Article

Clinical characteristics, longitudinal adaptive functioning, and association with electroencephalogram activity in PPP2R5D-related neurodevelopmental disorder.

Clinical genetics - 1 Jan 2025

Sudnawa Khemika K, Pini Nicolò, Li Wenxing, Kanner Cara H, Ryu Joseph, Calamia Sean, Bain Jennifer M, Goldman Sylvie, Montes Jacqueline, Shen Yufeng, Chung Wendy K

Abstract excerpt

Protein phosphatase 2 regulatory subunit B56δ related neurodevelopmental disorder (PPP2R5D-related NDD) is largely caused by de novo heterozygous missense PPP2R5D variants. We report medical characteristics, longitudinal adaptive functioning, and in-person neurological, motor, cognitive, and electroencephalogram (EEG) activity for PPP2R5D-related NDD. Forty-two individuals (median age 6 years, range = 0.8-25.3)...

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PMID: 39169681
DOI: 10.1111/cge.14612

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