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

doi:10.1111/cge.14033

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

Clinical genetics - 1 Nov 2021

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

Abstract excerpt

Early infantile epileptic encephalopathy 38 (EIEE38, MIM #617020) is caused by biallelic variants in ARV1, encoding a transmembrane protein of the endoplasmic reticulum with a pivotal role in glycosylphosphatidylinositol (GPI) biosynthesis. We ascertained seven new patients from six unrelated families harboring biallelic variants in ARV1, including five novel variants. Affected individuals showed psychomotor...

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PMID: 34296759
DOI: 10.1111/cge.14033

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