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Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene.
Desprairies, Camille; Valence, Stéphanie; Maurey, Hélène; Helal, Suzette I; Weckhuysen, Sarah; Soliman, Hala; Mefford, Heather C; Spentchian, Myrtille; Héron, Delphine; Leguern, Eric; Nava, Caroline; Bouilleret, Viviane; Moretti, Raffaella; Mignot, Cyril.
Affiliation
  • Desprairies C; APHP, Département de Génétique, GH Pitié-Salpêtrière, Paris, France.
  • Valence S; APHP, Service de Neuropédiatrie, Hôpital Trousseau, Paris, France.
  • Maurey H; APHP, Service de Neuropédiatrie, CHU de Bicêtre.
  • Helal SI; Department of Research of Children with Special Needs, Medical Division, National Research Centre, Cairo, Egypt.
  • Weckhuysen S; Department of Neurology, University Hospital Antwerp, Antwerp, Belgium.
  • Soliman H; Molecular genetics Department, Human Genetics & Genome Research Division, National Research Centre, Cairo, Egypt.
  • Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA.
  • Spentchian M; APHP, Département de Génétique, GH Pitié-Salpêtrière, Paris, France.
  • Héron D; APHP, Département de Génétique, GH Pitié-Salpêtrière, Paris, France.
  • Leguern E; Centre de Référence Déficiences Intellectuelles de Causes Rares, GH Pitié-Salpêtrière, Paris, France.
  • Nava C; Groupe de Recherche Clinique "Déficiences Intellectuelles et Autisme", Sorbonne Université, Paris, France.
  • Bouilleret V; APHP, Département de Génétique, GH Pitié-Salpêtrière, Paris, France.
  • Moretti R; Inserm U 1127, Institut du Cerveau et de la Moelle, GH Pitié Salpêtrière, Paris, France.
  • Mignot C; APHP, Département de Génétique, GH Pitié-Salpêtrière, Paris, France.
Clin Genet ; 97(3): 477-482, 2020 03.
Article in En | MEDLINE | ID: mdl-31883110
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Seizures / Spasms, Infantile / Phospholipase C beta Limits: Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Clin Genet Year: 2020 Document type: Article
Fulltext
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Seizures / Spasms, Infantile / Phospholipase C beta Limits: Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Clin Genet Year: 2020 Document type: Article