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Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins.
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.
Affiliation
  • Salian S; CHU Sainte-Justine Research Center, University of Montreal, Montreal, Quebec, Canada.
  • Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.
  • Nguyen TTM; IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Severino M; CHU Sainte-Justine Research Center, University of Montreal, Montreal, Quebec, Canada.
  • Accogli A; IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Amadori E; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.
  • Torella A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.
  • Pinelli M; Telethon Institute of Genetics and Medicine, Naples, Italy.
  • Hudson B; Department of Translational Medicine, Federico II University, Naples, Italy.
  • Boothe M; Genedx, Gaithersburg, Maryland, USA.
  • Hurst A; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Ben-Omran T; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Larsen MJ; Department of Pediatrics, Clinical and Metabolic Genetics, Weill Cornell Medical College, Ar-Rayyan, Qatar.
  • Fagerberg CR; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
  • Sperling L; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
  • Miceikaite I; Department of Gynecology and Obstetrics, Odense University Hospital, Odense, Denmark.
  • Herissant L; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
  • Doco-Fenzy M; Service de génétique, CHU Reims, Reims, France.
  • Jennesson M; Service de génétique, CHU Reims, Reims, France.
  • Nigro V; Pediatric Department, AMH2 CHU Reims, Reims, France.
  • Striano P; Telethon Institute of Genetics and Medicine, Naples, Italy.
  • Minetti C; Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Sachdev RK; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.
  • Palmer EE; IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Capra V; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.
  • Campeau PM; IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Clin Genet ; 100(5): 607-614, 2021 11.
Article in En | MEDLINE | ID: mdl-34296759
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Full text: 1 Database: MEDLINE Main subject: Phenotype / Spasms, Infantile / Genetic Predisposition to Disease / Genetic Association Studies / Membrane Proteins Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Male / Pregnancy Language: En Journal: Clin Genet Year: 2021 Type: Article Affiliation country: Canada
Fulltext
Add to My VHL
Print
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Full text: 1 Database: MEDLINE Main subject: Phenotype / Spasms, Infantile / Genetic Predisposition to Disease / Genetic Association Studies / Membrane Proteins Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Male / Pregnancy Language: En Journal: Clin Genet Year: 2021 Type: Article Affiliation country: Canada