Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases.

doi:10.1016/j.pediatrneurol.2024.04.027

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Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases.

Pediatric neurology - 1 Aug 2024

Natera-de Benito Daniel, Pugliese Alessia, Polavarapu Kiran, Guergueltcheva Velina, Tournev Ivailo, Todorova Albena, Afonso Ribeiro Joana, Fernández-Mayoralas Daniel M, Ortez Carlos, Martorell Loreto, Estévez-Arias Berta, Matalonga Leslie, Laurie Steven, Jou Cristina, Lau Jarred, Thompson Rachel, Shen Xinming, Engel Andrew G, Nascimento Andres, Lochmüller Hanns, Selcen Duygu

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BACKGROUND: Congenital myasthenic syndromes (CMS) are a group of inherited neuromuscular junction (NMJ) disorders arising from gene variants encoding diverse NMJ proteins. Recently, the VAMP1 gene, responsible for encoding the vesicle-associated membrane protein 1 (VAMP1), has been associated with CMS. METHODS: This study presents a characterization of five new individuals with VAMP1-related CMS, providing...

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Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases.

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