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

PPP2R5D-Related Neurodevelopmental Disorder or Developmental and Epileptic Encephalopathy?: A Novel Phenotypic Description and Review of Published Cases.

Neuropediatrics - 1 Feb 2022

Madaan Priyanka, Kaur Amrit, Saini Lokesh, Paria Pradip, Vyas Sameer, Sharma Amit R, Sahu Jitendra K

Abstract excerpt

BACKGROUND: Protein phosphatase 2 regulatory subunit B' delta (PPP2R5D)-related neurodevelopmental disorder is caused by pathogenic variations in the PPP2R5D gene, product of which is involved in dephosphorylation. This is a rare disorder with description limited to case reports. Its phenotypic spectrum has expanded over the last decade. METHODS: We report a child with a developmental and epileptic encephalopathy...

Read the complete abstract on PubMed

Topics

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

Share to Epilepsy
Share to Megalencephaly

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Neurodevelopmental Disorders

Share to Phenotype

Share to Protein Phosphatase 2

Source

Identifiers

PMID: 34448180
DOI: 10.1055/s-0041-1733984

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

PPP2R5D-Related Neurodevelopmental Disorder or Developmental and Epileptic Encephalopathy?: A Novel Phenotypic Description and Review of Published Cases.PMID 34448180Read ↗

PPP5C pathogenic variant identified: a potential key to gaining insight into developmental and epileptic encephalopathy?Semantic proximity Read ↗

PPP2R5D-Related Intellectual Disability and Neurodevelopmental Delay: A Review of the Current Understanding of the Genetics and Biochemical Basis of the Disorder.Semantic proximity Read ↗

Characteristics of Developmental and Epileptic Encephalopathy Associated with PACS2 p.Glu209Lys Pathogenic Variant-Our Experience and Systematic Review of the Literature.Semantic proximity Read ↗

CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature.Semantic proximity Read ↗

Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis.Semantic proximity Read ↗

A Novel Missense Variant in the Gene PPP2R5D Causes a Rare Neurodevelopmental Disorder with Increased Phenotype.Semantic proximity Read ↗

PPP2R1A-Related Neurodevelopmental Disorder: The First Korean Case with a Novel Variant of PPP2R1A and Literature Review.Semantic proximity Read ↗

An in-frame deletion affecting the critical acid loop of PPP2R5D is associated with a neonatal lethal form of PPP2R5D-related neurodevelopmental disorder.Semantic proximity Read ↗

Infantile Developmental Delay Caused by Pathogenic Mutation in WDR45 Gene and Literature ReviewSemantic proximity Read ↗

PPP2R5E: New gene potentially involved in specific learning disorders and myopathy.Semantic proximity Read ↗

De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.Semantic proximity Read ↗

Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.Semantic proximity Read ↗

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