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Article

Connectome Analysis in an Individual with SETD1B -Related Neurodevelopmental Disorder and Epilepsy.

Journal of developmental and behavioral pediatrics : JDBP - 1 Aug 2022

Weng Rosa, Nenning Karl-Heinz, Schwarz Michelle, Riedhammer Korbinian M, Brunet Theresa, Wagner Matias, Kasprian Gregor, Lehrner Johann, Zimprich Fritz, Bonelli Silvia B, Krenn Martin

Abstract excerpt

OBJECTIVE: Causative variants in SETD1B , encoding a lysine-specific methyltransferase, have recently been associated with a neurodevelopmental phenotype encompassing intellectual disability, autistic features, pronounced language delay, and epilepsy. It has been noted that long-term and deep phenotype data are needed to further delineate this rare condition. METHODS: In this study, we provide an in-depth...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35385430
DOI: 10.1097/DBP.0000000000001079

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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