Related Experiment Video
Updated: Jan 25, 2026

Comprehensive Endovascular and Open Surgical Management of Cerebral Arteriovenous Malformations
Published on: October 20, 2017
Severe presentation and complex brain malformations in an individual carrying a CCND2 variant
Gerarda Cappuccio1,2, Lorenzo Ugga3, Elena Parrini4
1Department of Translational Medicine, Federico II University, Naples, Italy.
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) is a rare brain disorder. A new CCND2 gene variant caused severe brain malformations, including hypomyelination, expanding the known MPPH spectrum.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) is a rare developmental brain disorder.
- MPPH is characterized by megalencephaly and polymicrogyria, linked to the PI3K-AKT pathway.
- Mutations in CCND2 are rarely reported in MPPH patients.
More Related Videos
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
06:18A Bedside, Single Burr Hole Approach to Multimodality Monitoring in Severe Brain Injury
Published on: March 26, 2019
Related Concept Videos
Self-Presentation: Self-Monitoring and Self-Handicapping
Self-Presentation
Strategies of Self-Presentation I: Strategic Self-Presentation
Protein Complexes with Interchangeable Parts
The SCF ubiquitin ligase is a protein complex of five individual proteins. This complex attaches ubiquitin to other target proteins to mark them for degradation. In order...
Processes of Self-Presentation
Histone Variants at the Centromere