05.02.2025

Constitutive opening of the Kv7.2 pore activation gate causes KCNQ2-developmental encephalopathy

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27.11.2024
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Constitutive opening of the Kv7.2 pore activation gate causes KCNQ2-developmental encephalopathy
Proceedings of the National Academy of Sciences, Volume 121, Issue 49, December 2024. <br/>SignificanceVariants in ion channel genes controlling neuronal excitability can cause severe neuropsychiatric disorders including developmental and/or epileptic encephalopathies (DEEs) characterized by developmental delay or regression with or without ...