Publication
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 Nigro, Pasquale Striano, Carlo Minetti, Rani K. Sachdev, Emma Elizabeth Palmer, Valeria Capra, Philippe M. Campeau
Clinical Genetics, July 2021, Wiley
DOI: 10.1111/cge.14033