Biallelic CRELD I variants cause severe muscle weakness and infantile epilepsy

D'Alessandro, Manuela; Bamborschke, Daniel; Bülow, Margret H.; Özdemir, Özkan; Daimagüler, Hülya-Sevcan; Brümmer, Verena; Kucharowski, Nicole; Sellin, Julia; Brunn, Anna; Deckert, Martina; Wunderlich, Gilbert; Koerber, Friederike; Bessereau, Jean-Louis; Cirak, Sebahattin

Biallelic CRELD I variants cause severe muscle weakness and infantile epilepsy

Date

2025

Authors

D'Alessandro, Manuela

Bamborschke, Daniel

Bülow, Margret H.

Özdemir, Özkan

Daimagüler, Hülya-Sevcan

Brümmer, Verena

Kucharowski, Nicole

Sellin, Julia

Brunn, Anna

Deckert, Martina

Publication Type

Wissenschaftlicher Artikel

Published in

Brain communications, 2025

Institutions

UKU. Klinik für Kinder- und Jugendmedizin

DOI external

10.1093/braincomms/fcaf326

Keywords

CRELD1, nicotinic acetylcholine receptor, arthrogryposis, epilepsy, DDC 610 / Medicine & health

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Biallelic CRELD I variants cause severe muscle weakness and infantile epilepsy

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