Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder

European Journal of Human Genetics 2026 Open access

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Authors: Kazuyuki Komatsu, Atsushi Sugie, Yohei Nitta, Jiro Osaka, Ummul Halilunnisa Mansoor Hussain, Mitsuru Kubota, Nobuyuki Shimozawa, Melissa T. Carter, Petra J. G. Zwijnenburg, Quinten Waisfisz, Felix Boschann, Denise Horn
+2 more Mitsuko Nakashima, Hirotomo Saitsu
DOI: 10.1038/s41431-026-02151-5
Cited by: 1
References: 48

Fields of Study & Subjects

Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Epilepsy research and treatment

Publication details

Journal / source
European Journal of Human Genetics
Publisher
Springer Science and Business Media LLC
Volume
34
Issue
8
Pages
1047–1058
Publication date
24 June 2026
Language
EN