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Article

Nav1.2 channel mutations preventing fast inactivation lead to SCN2A encephalopathy.

Brain : a journal of neurology - 7 Jan 2025

Berecki Géza, Tao Elaine, Howell Katherine B, Coorg Rohini K, Andersen Erik, Kahlig Kris, Wolff Markus, Corry Ben, Petrou Steven

Abstract excerpt

SCN2A gene-related early-infantile developmental and epileptic encephalopathy (EI-DEE) is a rare and severe disorder that manifests in early infancy. SCN2A mutations affecting the fast inactivation gating mechanism can result in altered voltage dependence and incomplete inactivation of the encoded neuronal Nav1.2 channel and lead to abnormal neuronal excitability. In this study, we evaluated clinical data of...

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PMID: 38939966
DOI: 10.1093/brain/awae213

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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