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Expanding the clinical phenotype and genetic spectrum of GEMIN5 disorders: Early-infantile developmental and epileptic encephalopathies.

Brain and behavior - 1 May 2024

Zhang Jing, Liu Xinting, Zhu Gang, Wan Lin, Liang Yan, Li Nannan, Huang Mingwei, Yang Guang

Abstract excerpt

BACKGROUND: Several biallelic truncating and missense variants of the gem nuclear organelle-associated protein 5 (GEMIN5) gene have been reported to cause neurodevelopmental disorders characterized by cerebellar atrophy, intellectual disability, and motor dysfunction. However, the association between biallelic GEMIN5 variants and early-infantile developmental and epileptic encephalopathies (EIDEEs) has not been...

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Identifiers

PMID: 38773790
DOI: 10.1002/brb3.3535
PMCID: PMC11109505

Genes

GEMIN5
TPR

Variants

Provenance

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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