Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms

Author:

Veltra Danai1ORCID,Tilemis Faidon-Nikolaos12,Marinakis Nikolaos M.12ORCID,Svingou Maria1,Mitrakos Anastasios1,Kosma Konstantina1,Tsoutsou Irene1,Makrythanasis Periklis134,Theodorou Virginia5,Katsalouli Marina5,Vorgia Pelagia6,Niotakis Georgios7,Vartzelis Georgios8,Dinopoulos Argirios9,Evangeliou Athanasios10,Mouskou Stella11,Korona Anastasia11,Mastroyianni Sotiria11,Papavasiliou Antigone12,Tzetis Maria1ORCID,Pons Roser13,Traeger-Synodinos Joanne1ORCID,Sofocleous Christalena1ORCID

Affiliation:

1. Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece

2. Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, National and Kapodistrian University of Athens, St. Sophia’s Children’s Hospital, Athens, Greece

3. Department of Genetic Medicine and Development, Medical School, University of Geneva, Geneva, Switzerland

4. Biomedical Research Foundation of the Academy of Athens, Athens, Greece

5. Pediatric Neurology Department, St. Sophia’s Children’s Hospital, Athens, Greece

6. Agrifood and Life Sciences Institute, Hellenic Mediterranean University, Heraklion, Crete, Greece

7. Pediatric Neurology Department, Venizelion Hospital, Heraklion, Greece

8. Second Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, P. & A. Kyriakou Children’s Hospital, Athens, Greece

9. Forth Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, General Hospital of Athens Attikon, Athens, Greece

10. Aristotle University of Thessaloniki, Papageorgiou General Hospital, Thessaloniki, Greece

11. Pediatric Neurology Department, P. & A. Kyriakou Children’s Hospital, Athens, Greece

12. Department of Pediatric Neurology, Iaso Children’s Hospital, Marousi, Greece

13. First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, St. Sophia’s Children’s Hospital, Athens, Greece

Publisher

Informa UK Limited

Subject

Genetics,Molecular Biology,Molecular Medicine,Pathology and Forensic Medicine

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