Article

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

2025-08-19

Abstract excerpt

<h4>Objective</h4> SCN2A pathogenic mutations, such as the recurrent heterozygous Nav1.2-L1342P, are monogenic causes of epilepsy. In this human-induced pluripotent stem cell model system, we aim to investigate the molecular and cellular mechanisms underlying the SCN2A-L1342P-associated pathology. <h4>Methods</h4> Using a human male iPSC reference line (KOLF) carrying the Nav1.2-L1342P mutation, we generated 3D...

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Literature Corpus work: 780229d5-2a3f-5cb5-8cf3-2df4de8583eb
DOI: 10.1101/2025.08.18.670956

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