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

Cerebellar dysplasia related to PIK3CA mutation: a three-case series.

Neurogenetics - 1 Mar 2021

Di Stasi Martina, Izzo Giana, Cattaneo Elisa, Baraldini Vittoria, Doneda Chiara, Righini Andrea, Graziani Daniela, Toto Valentina, Parazzini Cecilia

Abstract excerpt

The term PROS (PIK3CA-Related Overgrowth Spectrum) indicates a wide spectrum of overgrowth disorders related to somatic mutations in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) pathway. We present three cases with PIK3CA mutation and clinical characteristics encompassing MCAP (megalencephaly-capillary malformation) condition but lacking all criteria to a certain diagnosis, most...

Read the complete abstract on PubMed

Topics

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

Share to Class I Phosphatidylinositol 3-Kinases
Share to Magnetic Resonance Imaging

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Megalencephaly

Share to Mutation

Share to Nervous System Malformations

Share to Phenotype

Source

Identifiers

PMID: 32901329
DOI: 10.1007/s10048-020-00628-z

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

Cerebellar dysplasia related to PIK3CA mutation: a three-case series.PMID 32901329Read ↗

Brain Abnormalities in PIK3CA-Related Overgrowth Spectrum: Physician, Patient, and Caregiver Experiences.Semantic proximity Read ↗

PIK3CA-related overgrowth with an uncommon phenotype: case report.Semantic proximity Read ↗

[PIK3CA-related overgrowth syndrome (PROS)].Semantic proximity Read ↗

Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.Semantic proximity Read ↗

Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations.Semantic proximity Read ↗

Intracranial venous malformation masquerading as a meningioma in PI3KCA-related overgrowth spectrum disorder.Semantic proximity Read ↗

Radiological Evaluation of the Natural History of PIK3CA-Related Overgrowth Spectrum (PROS)Semantic proximity Read ↗

[PIK3CA-related overgrowth spectrum (PROS): new insight in known diseases].Semantic proximity Read ↗

A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations.Semantic proximity Read ↗

Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS).Semantic proximity Read ↗

Updates on Diagnosis and Treatment of PIK3CA-Related Overgrowth Spectrum.Semantic proximity Read ↗

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.Semantic proximity Read ↗

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