Back to search

Article

Phenotypic and transcriptomic characterisation of a novel biallelic <i>RNU2-2</i> developmental and epileptic encephalopathy

2026-02-23

Abstract excerpt

A significant proportion of individuals with suspected genetic developmental and epileptic encephalopathies (DEEs) remain unsolved following whole genome sequencing (WGS). We screened individuals who received WGS analyses at Genomic Medicine Centre Karolinska for Rare Diseases for biallelic RNU2-2 variants. Deep phenotyping was performed and phenotypic traits were transcribed to their corresponding Human Phenotyp...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
6b7f1bcd-5182-5d69-8b73-1935d139c5a1
DOI
10.64898/2026.02.19.26345867
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Phenotypic and transcriptomic characterisation of a novel biallelic <i>RNU2-2</i> developmental and epileptic encephalopathyDOI 10.64898/2026.02.19.26345867
Biallelic variants in <i>RNU2-2</i> cause a remarkably frequent developmental epileptic encephalopathySemantic proximity
Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.Semantic proximity
Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathiesSemantic proximity
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.Semantic proximity
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.Semantic proximity
Biallelic variants in <i>RNU2-2</i> cause the most prevalent known recessive neurodevelopmental disorderSemantic proximity
Mutations in the U2 snRNA gene <i>RNU2-2P</i> cause a severe neurodevelopmental disorder with prominent epilepsySemantic proximity
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders.Semantic proximity
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.Semantic proximity
Saturation genome editing of<i>RNU4-2</i>reveals distinct dominant and recessive neurodevelopmental disordersSemantic proximity
De novo mutations in HNRNPU result in a neurodevelopmental syndrome.Semantic proximity
RNU4-2 variants cause neurodevelopmental disorders.Semantic proximity
Select a neighboring publication to make it the new centre.