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Article

Expansion of clinical and variant spectrum of EEF2-related neurodevelopmental disorder: Report of two additional cases.

American journal of medical genetics. Part A - 1 Oct 2023

Guo Rose, Rippert Alyssa L, Cook Edward B, Alves Cesar Augusto P, Bird Lynne M, Izumi Kosuke

Abstract excerpt

Eukaryotic translation elongation factor 2 (eEF2), encoded by the gene EEF2, is an essential factor involved in the elongation phase of protein translation. A specific heterozygous missense variant (p.P596H) in EEF2 was originally identified in association with autosomal dominant adult-onset spinocerebellar ataxia-26 (SCA26). More recently, additional heterozygous missense variants in this gene have been...

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Identifiers

PMID: 37159414
DOI: 10.1002/ajmg.a.63230
PMCID: PMC10527330

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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