Associated Papers
Epilepsy or neurodevelopmental disorders are associated with homozygous and pathogenic ELP2 variation in three siblings.
Khalilov D et al.
Neurocase, 2022
Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype.
Kojic M et al.
Nature Communications, 2021
Clinical and molecular findings in a Turkish family with an ultra-rare condition, ELP2-related neurodevelopmental disorder.
Dogan M et al.
Molecular Biology Reports, 2021
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
Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders.
Rossi M et al.
Pediatric Neurology, 2017
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