Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

ELP2 compound heterozygous variants associated with cortico-cerebellar atrophy, nodular heterotopia and epilepsy: Phenotype expansion and review of the literature.

European journal of medical genetics - 1 Dec 2021

Russo Angelo, Forest Cristina, Leone Giulia Joy, Iascone Maria, Tenconi Romano, Maffei Monica, Cersosimo Antonella, Cordelli Duccio Maria, Suppiej Agnese

Abstract excerpt

The elongator complex is a highly conserved macromolecular assembly composed by 6 individual proteins (Elp 1-6) and it is essential for many cellular functions such as transcription elongation, histone acetylation and tRNA modification. ELP2 is the second major subunit and with Elp1 and Elp3 it shapes the catalytic core of this essential complex. ELP2 gene pathogenic variants have been reported to be associated...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Atrophy
Share to Cerebellar Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsy

Share to Heterozygote

Share to Intellectual Disability

Share to Intracellular Signaling Peptides and Proteins

Share to Phenotype

Source

Identifiers

PMID: 34653680
DOI: 10.1016/j.ejmg.2021.104361

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

ELP2 compound heterozygous variants associated with cortico-cerebellar atrophy, nodular heterotopia and epilepsy: Phenotype expansion and review of the literature.PMID 34653680Read ↗

ELP2 is a novel gene implicated in neurodevelopmental disabilities.Semantic proximity Read ↗

Clinical and molecular findings in a Turkish family with an ultra-rare condition, ELP2-related neurodevelopmental disorder.Semantic proximity Read ↗

Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.Semantic proximity Read ↗

Epilepsy or neurodevelopmental disorders are associated with homozygous and pathogenic ELP2 variation in three siblings.Semantic proximity Read ↗

Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype.Semantic proximity Read ↗

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.Semantic proximity Read ↗

Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical featuresSemantic proximity Read ↗

ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants.Semantic proximity Read ↗

Genetic investigations of the epileptic encephalopathies: Recent advances.Semantic proximity Read ↗

Clinical phenotype and genotype of NPRL2-related epilepsy: Four cases reports and literature review.Semantic proximity Read ↗

Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvementSemantic proximity Read ↗

<i>MDGA2</i> homozygous loss-of-function variants cause developmental and epileptic encephalopathySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.