Associated Papers
Epilepsy or neurodevelopmental disorders are associated with homozygous and pathogenic ELP2 variation in three siblings.
Khalilov D et al.
Neurocase, 2022
HACE1, GLRX5, and ELP2 gene variant cause spastic paraplegies.
Sager G et al.
Acta Neurologica Belgica, 2022
A Novel ELP2 Compound Heterozygous Mutation in a Boy with Severe Intellectual Disability, Spastic Diplegia, Stereotypic Behavior and Review of the Current Literature.
Turkyilmaz A et al.
Molecular Syndromology, 2020
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