Article

Pannexin-1 channel activity regulates neurogenesis and cell survival in the developing cortex

2026-01-09

Abstract excerpt

Mutations in genes encoding a range of ion-conducting proteins disrupt development of the cerebral cortex in humans, often causing polymicrogyria (PMG), yet how ion conduction guides the development of cortical architecture is not clear. Here, we describe three individuals with brain malformations including PMG and microcephaly in whom de novo , missense mutations were identified in PANX1 – encoding an ATP and i...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 16dff651-388a-56f8-9760-ee4c6f30233c
DOI: 10.64898/2026.01.09.697058

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Pannexin-1 channel activity regulates neurogenesis and cell survival in the developing cortexDOI 10.64898/2026.01.09.697058Read

iPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activitySemantic proximity Read

A Germline Variant in the PANX1 Gene Has Reduced Channel Function and Is Associated with Multisystem DysfunctionSemantic proximity Read

ALG13 loss-of-function alters glycosylation, impairs neuronal maturation, and drives network hypoactivity in a cortical organoid model of CDGSemantic proximity Read

Early role for a Na+,K+-ATPase (ATP1A3) in brain development.Semantic proximity Read

Role for the Na <sup>+</sup> /K <sup>+</sup> ATPase pump alpha 3 ( <i>ATP1A3</i> ) subunit in folding and lamination of the human neocortexSemantic proximity Read

Characterization of Electrophysiological and Transcriptomic Alterations in Patient-Derived Neurons from CHAMP1 SyndromeSemantic proximity Read

Epilepsy-Associated SCN2A-L1342P Mutation Drives Network Hyperexcitability and Widespread Transcriptomic Changes in Human Cortical OrganoidsSemantic proximity Read

Apically localized PANX1 impacts neuroepithelial expansion in human cerebral organoidsSemantic proximity Read

A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients.Semantic proximity Read

Sodium channel Nav1.2-L1342P variant displaying complex biophysical properties renders hyperexcitability of cortical neurons derived from human iPSCsSemantic proximity Read

Modeling Cortical Versus Hippocampal Network Dysfunction in a Human Brain Assembloid Model of Epilepsy and Intellectual DisabilitySemantic proximity Read

Human Medial Ganglionic Eminence Organoids Robustly Generate Parvalbumin Interneurons and Fast-Spiking Neurons and Reveal Migratory Deficits in SLC6A1 Deficient InterneuronsSemantic proximity Read