Epileptic encephalopathy caused by ARV1 deficiency: refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins

Smrithi Salian, Marcello Scala, Thi Tuyet Mai Nguyen, Mariasavina Severino, Andrea Accogli, Elisabetta Amadori, Annalaura Torella, Michele Pinelli, Beth Hudson, Megan Boothe, Anna Hurst, Tawfeg Ben-Omran, Martin J Larsen, Christina R Fagerberg, Lene Sperling, Ieva Miceikaite, Lucas Herissant, Martine Doco-Fenzy, Mélanie Jennesson, Vincenzo NigroPasquale Striano, Carlo Minetti, Rani K Sachdev, Emma Elizabeth Palmer, Valeria Capra, Philippe M Campeau

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Medicin og biovidenskab