Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.

doi:10.3390/genes13020276

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

Community

Back to search

Article

Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.

Genes - 30 Jan 2022

Orsini Alessandro, Santangelo Andrea, Bravin Francesca, Bonuccelli Alice, Peroni Diego, Battini Roberta, Foiadelli Thomas, Bertini Veronica, Valetto Angelo, Iacomino Michele, Nigro Vincenzo, Torella Anna Laura, Scala Marcello, Capra Valeria, Vari Maria Stella, Fetta Anna, Di Pisa Veronica, Montanari Francesca, Epifanio Roberta, Bonanni Paolo, Giorda Roberto, Operto Francesca, Pastorino Grazia, Sarigecili Esra, Sardaroglu Esra, Okuyaz Cetin, Bozdogan Sevgan, Musante Luciana, Faletra Flavio, Zanus Caterina, Ferretti Alessandro, Vigevano Federico, Striano Pasquale, Cordelli Duccio Maria

Abstract excerpt

BACKGROUND: Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS) is a rare disease linked to mutations of the CSNK2B gene, which encodes for a subunit of caseinkinase CK2 involved in neuronal growth and synaptic transmission. Its main features include early-onset epilepsy and intellectual disability. Despite the lack of cases described, it appears that POBINDS could manifest with a wide range of phenotypes,...

Read the complete abstract on PubMed

Topics

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

Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Developmental Disabilities

Share to Epilepsy

Share to Intellectual Disability

Share to Phenotype

Share to Protein Tyrosine Phosphatases

Share to RNA regulation and disease

Share to Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 35205321
DOI: 10.3390/genes13020276
PMCID: PMC8872204

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.PMID 35205321Read ↗

Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders.Semantic proximity Read ↗

Genetic analysis of Poirier Bienvenu neurodevelopmental syndrome associated with CSNK2B variationSemantic proximity Read ↗

Two different presentations of de novo variants of CSNK2B: two case reports.Semantic proximity Read ↗

Refining of the electroclinical phenotype in familial and sporadic cases of CSNK2B-related Neurodevelopmental Syndrome.Semantic proximity Read ↗

Genetic analysis and literature review of a Poirier-Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B.Semantic proximity Read ↗

Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation.Semantic proximity Read ↗

Developmental and epilepsy spectrum of Poirier-Bienvenu neurodevelopmental syndrome: Description of a new case study and review of the available literature.Semantic proximity Read ↗

Poirier-Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth.Semantic proximity Read ↗

CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy.Semantic proximity Read ↗

Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome.Semantic proximity Read ↗

CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.Semantic proximity Read ↗

Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals.Semantic proximity Read ↗

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