Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib

Morin G, Degrugillier-Chopinet C, Vincent M, Fraissenon A, Aubert H, Chapelle C, Higuin C, Dubos F, Catteau B, Petit F, Mezel A, Domanski O, Herbreteau G, Alesandrini M, Boddaert N, Boutry N, Broissand C, Han TK, Branle F, Sarnacki S, Blanc T, Guibaud L, Canaud G

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Alpelisib administration reduced lymphatic malformations in a mouse model and in patients

Florence Delestre, Quitterie Venot, Charles Bayard, Antoine Fraissenon, Sophia Ladraa, Clément Hoguin, Célia Chapelle, Junna Yamaguchi, Rubina Cassaca, Lola Zerbib, Sato Magassa, Gabriel Morin, Vahid Asnafi, Patrick Villarese, Sophie Kaltenbach, Sylvie Fraitag, Jean-Paul Duong, Christine Broissand, Olivia Boccara, Véronique Soupre, Bernard Bonnotte, Caroline Chopinet, Tristan Mirault, Christophe Legendre, Laurent Guibaud, Guillaume Canaud

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Treatment strategies for mosaic overgrowth syndromes of the PI3K-AKT-mTOR pathway
Gabriel Morin, Guillaume Canaud

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Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) – Bonduelle et al. acta neuropathol commun

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Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia – Annals Clinical and Translational Neurology
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