Article
Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans.
Nature communications - 13 Jan 2026
Bonardi Claudia M, Møller Rikke S, Ruiz-Reig Nuria, Chai Guoliang, Madsen Camilla G, Bayat Allan, Hammer Trine B, Fenger Christina D, Gardella Elena, Gawlinski Pawel, Dawidziuk Mateusz, Wiszniewski Wojciech, Bekiesinska-Figatowska Monika, Cabet Sara, Rossi Massimiliano, Lesca Gaetan, Gouy Evan, Jepsen Birgit, Mieszczanek Tomasz S, Sanchez Russo Rossana, Barr Eileen E, Õunap Katrin, Ilves Pilvi, Wojcik Monica H, Aittaleb Mohamed, Brusgaard Klaus, Tissir Fadel, Rubboli Guido
Abstract excerpt
The CELSR1 gene is a core component of the tissue/planar cell polarity signaling pathway. It encodes a developmentally regulated protein that belongs to the adhesion G protein-coupled receptors. Herein we describe seven subjects, from five unrelated families, featuring a neurodevelopmental disorder associated with biallelic CELSR1 variants. The main phenotypic features of this disorder are different types of...
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