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MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy.
Boeri, Silvia; Scala, Marcello; Madia, Francesca; Perucco, Francesca; Vozzi, Diego; Capra, Valeria; Zara, Federico; Nobili, Lino; Mancardi, Maria Margherita.
Affiliation
  • Boeri S; Unit of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini, Epicare Network for Rare Disease, Genoa, Italy.
  • Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.
  • Madia F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.
  • Perucco F; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Vozzi D; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Capra V; Unit of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini, Epicare Network for Rare Disease, Genoa, Italy.
  • Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.
  • Nobili L; Genomics Facility, Italian Institute of Technology (IIT), Genoa, Italy.
  • Mancardi MM; Genomics and Clinical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Epileptic Disord ; 25(6): 874-879, 2023 Dec.
Article in En | MEDLINE | ID: mdl-37518898
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Full text: 1 Database: MEDLINE Main subject: Epilepsy / Autism Spectrum Disorder Limits: Humans / Male Language: En Year: 2023 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Epilepsy / Autism Spectrum Disorder Limits: Humans / Male Language: En Year: 2023 Type: Article