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Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

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Title: Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
Authors: Dimassi S; Department of Medical Genetics, Lyon University Hospital, Lyon, France.; CNRS UMR 5292, INSERM U1028, CNRL, Lyon, France.; Claude Bernard Lyon I University, University of Lyon, Lyon, France.; Cytogenetics and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia.; Common Service Units for Research in Genetics, Faculty of Medicine of Sousse, Avenue Mohamed Karoui, University of Sousse, Tunisia., Labalme A; Department of Medical Genetics, Lyon University Hospital, Lyon, France., Ville D; Department of Neuropediatrics, Lyon University Hospital, Lyon, France., Calender A; Claude Bernard Lyon I University, University of Lyon, Lyon, France.; Department of Molecular Genetics, Lyon University Hospital, Lyon, France., Mignot C; Département de Génétique et Centre de Référence 'Déficiences intellectuelles de causes rares', AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.; Department of Pediatric Neurophysiology, Amiens University Hospital, Amiens, France., Boutry-Kryza N; CNRS UMR 5292, INSERM U1028, CNRL, Lyon, France.; Claude Bernard Lyon I University, University of Lyon, Lyon, France.; Department of Molecular Genetics, Lyon University Hospital, Lyon, France., de Bellescize J; Epilepsy, Sleep and Pediatric Neurophysiology Department, Lyon University Hospital, Lyon, France., Rivier-Ringenbach C; Department of Pediatrics, Nord-Ouest Hospital, Villefranche-sur-Saone, France., Bourel-Ponchel E; Department of Pediatric Neurophysiology, Amiens University Hospital, Amiens, France., Cheillan D; Claude Bernard Lyon I University, University of Lyon, Lyon, France.; Service des Maladies Héréditaires du métabolisme, INSERM U1060, Lyon University Hospital, Lyon, France., Simonet T; Department of Cell Biotechnology, ENS Lyon, Lyon University Hospital, Lyon, France., Maincent K; Department of Pediatric Neurology, Hôpital Trousseau, Assistance Publique des Hôpitaux de Paris, Paris, France., Rossi M; Department of Medical Genetics, Lyon University Hospital, Lyon, France.; CNRS UMR 5292, INSERM U1028, CNRL, Lyon, France., Till M; Department of Medical Genetics, Lyon University Hospital, Lyon, France., Mougou-Zerelli S; Cytogenetics and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia.; Common Service Units for Research in Genetics, Faculty of Medicine of Sousse, Avenue Mohamed Karoui, University of Sousse, Tunisia., Edery P; Department of Medical Genetics, Lyon University Hospital, Lyon, France.; CNRS UMR 5292, INSERM U1028, CNRL, Lyon, France.; Claude Bernard Lyon I University, University of Lyon, Lyon, France., Saad A; Cytogenetics and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia.; Common Service Units for Research in Genetics, Faculty of Medicine of Sousse, Avenue Mohamed Karoui, University of Sousse, Tunisia., Heron D; Département de Génétique et Centre de Référence 'Déficiences intellectuelles de causes rares', AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.; GRC-Génétique des Déficiences Intellectuelles de Causes rares, Université Pierre et Marie Curie, Paris, France., des Portes V; Department of Neuropediatrics, Lyon University Hospital, Lyon, France.; Department of Molecular Genetics, Lyon University Hospital, Lyon, France.; Reference Center for Tuberous Sclerosis and Rare Epileptic Syndromes, Lyon University Hospital, Lyon, France., Sanlaville D; Department of Medical Genetics, Lyon University Hospital, Lyon, France.; CNRS UMR 5292, INSERM U1028, CNRL, Lyon, France.; Claude Bernard Lyon I University, University of Lyon, Lyon, France., Lesca G; Department of Medical Genetics, Lyon University Hospital, Lyon, France.; CNRS UMR 5292, INSERM U1028, CNRL, Lyon, France.; Claude Bernard Lyon I University, University of Lyon, Lyon, France.
Source: Clinical genetics [Clin Genet] 2016 Feb; Vol. 89 (2), pp. 198-204. Date of Electronic Publication: 2015 Jul 30.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Dimassi+S%22">Dimassi S</searchLink>; Department of Medical Genetics, Lyon University Hospital, Lyon, France.; CNRS UMR 5292, INSERM U1028, CNRL, Lyon, France.; Claude Bernard Lyon I University, University of Lyon, Lyon, France.; Cytogenetics and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia.; Common Service Units for Research in Genetics, Faculty of Medicine of Sousse, Avenue Mohamed Karoui, University of Sousse, Tunisia.<br /><searchLink fieldCode="AU" term="%22Labalme+A%22">Labalme A</searchLink>; Department of Medical Genetics, Lyon University Hospital, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Ville+D%22">Ville D</searchLink>; Department of Neuropediatrics, Lyon University Hospital, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Calender+A%22">Calender A</searchLink>; Claude Bernard Lyon I University, University of Lyon, Lyon, France.; Department of Molecular Genetics, Lyon University Hospital, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Mignot+C%22">Mignot C</searchLink>; Département de Génétique et Centre de Référence 'Déficiences intellectuelles de causes rares', AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.; Department of Pediatric Neurophysiology, Amiens University Hospital, Amiens, France.<br /><searchLink fieldCode="AU" term="%22Boutry-Kryza+N%22">Boutry-Kryza N</searchLink>; CNRS UMR 5292, INSERM U1028, CNRL, Lyon, France.; Claude Bernard Lyon I University, University of Lyon, Lyon, France.; Department of Molecular Genetics, Lyon University Hospital, Lyon, France.<br /><searchLink fieldCode="AU" term="%22de+Bellescize+J%22">de Bellescize J</searchLink>; Epilepsy, Sleep and Pediatric Neurophysiology Department, Lyon University Hospital, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Rivier-Ringenbach+C%22">Rivier-Ringenbach C</searchLink>; Department of Pediatrics, Nord-Ouest Hospital, Villefranche-sur-Saone, France.<br /><searchLink fieldCode="AU" term="%22Bourel-Ponchel+E%22">Bourel-Ponchel E</searchLink>; Department of Pediatric Neurophysiology, Amiens University Hospital, Amiens, France.<br /><searchLink fieldCode="AU" term="%22Cheillan+D%22">Cheillan D</searchLink>; Claude Bernard Lyon I University, University of Lyon, Lyon, France.; Service des Maladies Héréditaires du métabolisme, INSERM U1060, Lyon University Hospital, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Simonet+T%22">Simonet T</searchLink>; Department of Cell Biotechnology, ENS Lyon, Lyon University Hospital, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Maincent+K%22">Maincent K</searchLink>; Department of Pediatric Neurology, Hôpital Trousseau, Assistance Publique des Hôpitaux de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Rossi+M%22">Rossi M</searchLink>; Department of Medical Genetics, Lyon University Hospital, Lyon, France.; CNRS UMR 5292, INSERM U1028, CNRL, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Till+M%22">Till M</searchLink>; Department of Medical Genetics, Lyon University Hospital, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Mougou-Zerelli+S%22">Mougou-Zerelli S</searchLink>; Cytogenetics and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia.; Common Service Units for Research in Genetics, Faculty of Medicine of Sousse, Avenue Mohamed Karoui, University of Sousse, Tunisia.<br /><searchLink fieldCode="AU" term="%22Edery+P%22">Edery P</searchLink>; Department of Medical Genetics, Lyon University Hospital, Lyon, France.; CNRS UMR 5292, INSERM U1028, CNRL, Lyon, France.; Claude Bernard Lyon I University, University of Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Saad+A%22">Saad A</searchLink>; Cytogenetics and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia.; Common Service Units for Research in Genetics, Faculty of Medicine of Sousse, Avenue Mohamed Karoui, University of Sousse, Tunisia.<br /><searchLink fieldCode="AU" term="%22Heron+D%22">Heron D</searchLink>; Département de Génétique et Centre de Référence 'Déficiences intellectuelles de causes rares', AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.; GRC-Génétique des Déficiences Intellectuelles de Causes rares, Université Pierre et Marie Curie, Paris, France.<br /><searchLink fieldCode="AU" term="%22des+Portes+V%22">des Portes V</searchLink>; Department of Neuropediatrics, Lyon University Hospital, Lyon, France.; Department of Molecular Genetics, Lyon University Hospital, Lyon, France.; Reference Center for Tuberous Sclerosis and Rare Epileptic Syndromes, Lyon University Hospital, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Sanlaville+D%22">Sanlaville D</searchLink>; Department of Medical Genetics, Lyon University Hospital, Lyon, France.; CNRS UMR 5292, INSERM U1028, CNRL, Lyon, France.; Claude Bernard Lyon I University, University of Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Lesca+G%22">Lesca G</searchLink>; Department of Medical Genetics, Lyon University Hospital, Lyon, France.; CNRS UMR 5292, INSERM U1028, CNRL, Lyon, France.; Claude Bernard Lyon I University, University of Lyon, Lyon, France.
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  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2016 Feb; Vol. 89 (2), pp. 198-204. <i>Date of Electronic Publication: </i>2015 Jul 30.
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