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Developmental and epileptic encephalopathy in a young Italian woman with a de novo missense variant in the CLCN4 gene: A case report.
Rossi, Jessica; Russo, Marco; Gobbi, Giuseppe; Terracciano, Alessandra; Zuntini, Roberta; Giuseppe Caraffi, Stefano; Novelli, Antonio; Garavelli, Livia; Valzania, Franco; Rizzi, Romana.
Affiliation
  • Rossi J; Clinical and Experimental Medicine PhD Program, University of Modena and Reggio Emilia, Modena, Italy; Neuromotor & Rehabilitation Department, Neurology Unit, Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.
  • Russo M; Neuromotor & Rehabilitation Department, Neurology Unit, Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.
  • Gobbi G; Chairman of the Scientific Commettee ASSOCIAZIONE ITALIANA EPILESSIA (AIE), Italia Odv, Italy.
  • Terracciano A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
  • Zuntini R; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
  • Giuseppe Caraffi S; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
  • Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
  • Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
  • Valzania F; Neuromotor & Rehabilitation Department, Neurology Unit, Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.
  • Rizzi R; Neuromotor & Rehabilitation Department, Neurology Unit, Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, Italy. Electronic address: Romana.Rizzi@ausl.re.it.
Brain Dev ; 45(8): 445-450, 2023 Sep.
Article in En | MEDLINE | ID: mdl-37271660
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Epilepsy, Generalized / Chloride Channels Type of study: Screening_studies Limits: Adult / Female / Humans Language: En Journal: Brain Dev Year: 2023 Type: Article Affiliation country: Italy
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Epilepsy, Generalized / Chloride Channels Type of study: Screening_studies Limits: Adult / Female / Humans Language: En Journal: Brain Dev Year: 2023 Type: Article Affiliation country: Italy