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GRM7-related disorder: five additional patients from three independent families and review of the literature.
Januel, Louis; Chatron, Nicolas; Rivier-Ringenbach, Clotilde; Cabet, Sara; Labalme, Audrey; Sahin, Yavuz; Darvish, Hossein; Kruer, Michael; Bakhtiari, Somayeh; Sanlaville, Damien; de Sainte Agathe, Jean Madeleine; Lesca, Gaetan.
  • Januel L; Hospices Civils de Lyon, Groupe Hospitalier Est, Service de Génétique, Bron, France. Electronic address: louis.januel@chu-lyon.fr.
  • Chatron N; Hospices Civils de Lyon, Groupe Hospitalier Est, Service de Génétique, Bron, France; Institut NeuroMyoGene PNMG, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France.
  • Rivier-Ringenbach C; Hôpital Nord-Ouest, Service de Neuropédiatre, Villefranche sur Saône, France.
  • Cabet S; Hospices Civils de Lyon, Groupe Hospitalier Est, Service de Radiologie, Bron, France.
  • Labalme A; Hospices Civils de Lyon, Groupe Hospitalier Est, Service de Génétique, Bron, France.
  • Sahin Y; Genoks Genetic Laboratory, Ankara, Turkey.
  • Darvish H; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.
  • Kruer M; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.
  • Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.
  • Sanlaville D; Hospices Civils de Lyon, Groupe Hospitalier Est, Service de Génétique, Bron, France; Institut NeuroMyoGene PNMG, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France.
  • de Sainte Agathe JM; Département de Génétique Médicale, GHU Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France.
  • Lesca G; Hospices Civils de Lyon, Groupe Hospitalier Est, Service de Génétique, Bron, France; Institut NeuroMyoGene PNMG, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France.
Eur J Med Genet ; 67: 104893, 2024 Feb.
Article en En | MEDLINE | ID: mdl-38070825
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Encefalopatías / Receptores de Glutamato Metabotrópico / Epilepsia / Trastornos del Neurodesarrollo Límite: Humans Idioma: En Año: 2024 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Encefalopatías / Receptores de Glutamato Metabotrópico / Epilepsia / Trastornos del Neurodesarrollo Límite: Humans Idioma: En Año: 2024 Tipo del documento: Article