Cerebellar heterotopia in an 11‐year‐old child with KDM6B‐related neurodevelopmental disorder: A case report and review of the literature

D Politano, F D'Abrusco, L Pasca… - American Journal of …, 2024 - Wiley Online Library
Heterozygous pathogenic variants in KDM6B have recently been associated to a rare
neurodevelopmental disorder referred to as “Neurodevelopmental disorder with coarse …

Antagonistic actions of PAK1 and NF2/Merlin drive myelin membrane expansion in oligodendrocytes

L Baudouin, N Adès, K Kanté, C Bachelin, H Hmidan… - Glia, 2024 - Wiley Online Library
In the central nervous system, the formation of myelin by oligodendrocytes (OLs) relies on
the switch from the polymerization of the actin cytoskeleton to its depolymerization. The …

Neuroradiologic, Clinical, and Genetic Characterization of Cerebellar Heterotopia: A Pediatric Multicentric Study

L Pasca, F Arrigoni, R Romaniello, MS Severino… - American Journal of …, 2025 - ajnr.org
BACKGROUND AND PURPOSE: Cerebellar heterotopia (CH) is a neuroradiologic
abnormality that is poorly reported and investigated in the literature. It can be observed as …

PAK3 pathogenic variant associated with sleep‐related hypermotor epilepsy in a family with parental mosaicism

A Gambardella, YC Liu, MF Bennett, TE Green… - Epilepsia …, 2025 - Wiley Online Library
Protein‐activated kinases mediate spine morphogenesis and synaptic plasticity. PAK3 is
part of the p21‐activated kinases (PAKs) family of Ras‐signaling serine/threonine kinases …

[HTML][HTML] Control of OPC proliferation and repopulation by the intellectual disability gene PAK1 under homeostatic and demyelinating conditions

Y Wang, B Kim, S Gong, J Park, M Zhu, EM Wong… - bioRxiv, 2024 - ncbi.nlm.nih.gov
Appropriate proliferation and repopulation of oligodendrocyte progenitor cells (OPCs)
determine successful (re) myelination in homeostatic and demyelinating brains. Activating …