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Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
Ververi, Athina; Zagaglia, Sara; Menzies, Lara; Baptista, Julia; Caswell, Richard; Baulac, Stephanie; Ellard, Sian; Lynch, Sally; Jacques, Thomas S; Chawla, Maninder Singh; Heier, Martin; Kulseth, Mari Ann; Mero, Inger-Lise; Våtevik, Anne Katrine; Kraoua, Ichraf; Ben Rhouma, Hanene; Ben Younes, Thouraya; Miladi, Zouhour; Ben Youssef Turki, Ilhem; Jones, Wendy D; Clement, Emma; Eltze, Christin; Mankad, Kshitij; Merve, Ashirwad; Parker, Jennifer; Hoskins, Bethan; Pressler, Ronit; Sudhakar, Sniya; DeVile, Catherine; Homfray, Tessa; Kaliakatsos, Marios; Robinson, Robert; Keim, Sara Margrete Bøen; Habibi, Imen; Reymond, Alexandre; Sisodiya, Sanjay M; Hurst, Jane A.
Afiliación
  • Ververi A; Department of Clinical Genetics & Genomic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Zagaglia S; Genetic Unit, 1st Obstetrics-Gynaecology Department, Aristotle University of Thessaloniki, Papageorgiou General Hospital, Thessaloniki, Greece.
  • Menzies L; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.
  • Baptista J; Chalfont Centre for Epilepsy, Chalfont St. Peter, UK.
  • Caswell R; Department of Clinical Genetics & Genomic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Baulac S; Faculty of Health, University of Plymouth, Plymouth, UK.
  • Ellard S; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.
  • Lynch S; Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Sorbonne Université, F-75013 Paris, France.
  • Jacques TS; Academic Centre on Rare Diseases, University College Dublin School of Medicine and Medical Science, Dublin, Ireland.
  • Chawla MS; Department of Clinical Genetics, Children's Health Ireland (CHI) at Crumlin, Dublin, Ireland.
  • Kulseth MA; Developmental Biology and Cancer Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Mero IL; Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Våtevik AK; Department of Neuroradiology, Oslo University Hospital, Oslo, Norway.
  • Kraoua I; Department of Clinical Neuroscience for Children, Oslo University Hospital, Oslo, Norway.
  • Ben Rhouma H; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Ben Younes T; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Miladi Z; National Center for Epilepsy-SSE, Oslo Univeristy Hospital, Oslo, Norway.
  • Ben Youssef Turki I; Research Laboratory LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia. Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.
  • Jones WD; Research Laboratory LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia. Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.
  • Clement E; Research Laboratory LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia. Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.
  • Eltze C; Research Laboratory LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia. Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.
  • Mankad K; Research Laboratory LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia. Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.
  • Merve A; Department of Clinical Genetics & Genomic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Parker J; Department of Clinical Genetics & Genomic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Hoskins B; Department of Paediatric Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Pressler R; Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Sudhakar S; Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • DeVile C; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Homfray T; North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Kaliakatsos M; Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Robinson R; Department of Paediatric Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Keim SMB; SW Thames Regional Genetics Service, St George's Hospital, St George's University of London, London, UK.
  • Habibi I; Department of Paediatric Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Sisodiya SM; Department of Paediatric Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Hurst JA; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Hum Mol Genet ; 32(4): 580-594, 2023 01 27.
Article en En | MEDLINE | ID: mdl-36067010
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Epilepsias Parciales / Megalencefalia / Polimicrogiria / Síndromes Epilépticos Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2023 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Epilepsias Parciales / Megalencefalia / Polimicrogiria / Síndromes Epilépticos Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2023 Tipo del documento: Article