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Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene.
Mastrangelo, Vincenzo; Minardi, Raffaella; Baroni, Maria Chiara; Severi, Giulia; Ambrosini, Enrico; Toni, Francesco; Alvisi, Lara; Licchetta, Laura; Bisulli, Francesca; Tinuper, Paolo; Mostacci, Barbara.
Afiliação
  • Mastrangelo V; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy. Electronic address: vincenzo.mastrangel2@studio.unibo.it.
  • Minardi R; IRCCS Istituto delle Scienze Neurologiche di Bologna, Italy. Full Member of the ERN EpiCARE.
  • Baroni MC; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
  • Severi G; UO Genetica Medica, Policlinico di Sant'Orsola, Bologna, Italy.
  • Ambrosini E; UO Genetica Medica, Policlinico di Sant'Orsola, Bologna, Italy.
  • Toni F; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuroradiologia, Bologna, Italy.
  • Alvisi L; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna, Italy. Full Member of the ERN EpiCARE.
  • Licchetta L; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna, Italy. Full Member of the ERN EpiCARE.
  • Bisulli F; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna, Italy. Full Member of the ERN EpiCARE.
  • Tinuper P; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna, Italy. Full Member of the ERN EpiCARE.
  • Mostacci B; IRCCS Istituto delle Scienze Neurologiche di Bologna, Italy. Full Member of the ERN EpiCARE.
Seizure ; 83: 169-171, 2020 Dec.
Article em En | MEDLINE | ID: mdl-33161245
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epilepsia / Síndrome de Sotos Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epilepsia / Síndrome de Sotos Idioma: En Ano de publicação: 2020 Tipo de documento: Article