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ARV1-related disorder

MedGen UID:
880141
•Concept ID:
CN235539
•
Disease or Syndrome
Synonym: ARV1-related condition

Recent clinical studies

Diagnosis

Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins.
Salian S, Scala M, Nguyen TTM, Severino M, Accogli A, Amadori E, Torella A, Pinelli M, Hudson B, Boothe M, Hurst A, Ben-Omran T, Larsen MJ, Fagerberg CR, Sperling L, Miceikaite I, Herissant L, Doco-Fenzy M, Jennesson M, Nigro V, Striano P, Minetti C, Sachdev RK, Palmer EE, Capra V, Campeau PM
Clin Genet 2021 Nov;100(5):607-614. Epub 2021 Jul 29 doi: 10.1111/cge.14033. PMID: 34296759

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