Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by <scp> <i>TSPYL1</i> </scp> variants-Reference-Cited by-同舟云学术

Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants

Published:2022-09-09 Issue:12 Volume:188 Page:3540-3545
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Mazel Benoit¹²³^ORCID,Mallet Delphine⁴⁵,Roucher‐Boulez Florence⁴⁵⁶^ORCID,Signor Candace Ben⁷,Bournez Marie¹,Darmency Véronique⁸,Bourgeois Valentin⁹,Poe Charlotte⁹,El Khabbaz Fares¹⁰,Vitobello Antonio³⁹,Philippe Christophe³⁹,Duffourd Yannis³⁹,Thauvin‐Robinet Christel¹²⁹,Faivre Laurence¹²⁹^ORCID,Nambot Sophie¹²⁹

Affiliation:

1. Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs FHUTRANSLAD – CHU Dijon Bourgogne Dijon France

2. Fédération Hospitalo‐Universitaire Médecine Translationnelle et Anomalies du Développement (FHUTRANSLAD) CHU Dijon Bourgogne et Université de Bourgogne‐Franche Comté Dijon France

3. Laboratoire de Génétique Chromosomique et Moléculaire, UF Innovation en Diagnostic Génomique des Maladies Rares Centre Hospitalier Universitaire de Dijon Dijon France

4. Hospices Civils de Lyon, Groupement Hospitalier Est, Laboratoire de Biochimie et Biologie Moléculaire Grand Est UM Pathologies Endocriniennes et Mucoviscidose Bron France

5. Centre de Référence du Développement Génital: du Fœtus à l'Adulte, Filière Maladies Rares Endocriniennes Bron France

6. Université de Lyon, Université Claude‐Bernard Lyon 1 Lyon France

7. Department of Endocrino‐Pediatry Dijon University Hospital Dijon France

8. Service de Neurophysiologie Clinique, Hôpital d'Enfants CHU Dijon Bourgogne Dijon France

9. Inserm UMR1231 GAD, Génétique des Anomalies du Développement Université de Bourgogne Dijon France

10. Service de Soins Intensifs Néonataux Centre Hospitalier d'Auxerre Auxerre France

Funder

European Commission

Université de Bourgogne

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62966

Reference12 articles.

1. Unravelling the disease mechanism for TSPYL1 deficiency

2. Subcellular recruitment by TSG118 and TSPYL implicates a role for zinc finger protein 106 in a novel developmental pathway

3. Genetic investigation of the TSPYL1 gene in sudden infant death syndrome

4. Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

5. Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

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