Expanding the phenotype of PIGS ‐associated early onset epileptic developmental encephalopathy

Author:

Efthymiou Stephanie1ORCID,Dutra‐Clarke Marina2,Maroofian Reza1,Kaiyrzhanov Rauan1,Scala Marcello34,Reza Alvi Javeria5,Sultan Tipu5,Christoforou Marilena1,Tuyet Mai Nguyen Thi6,Mankad Kshitij7,Vona Barbara8ORCID,Rad Aboulfazl8,Striano Pasquale34ORCID,Salpietro Vincenzo34,Guillen Sacoto Maria J.9,Zaki Maha S.10,Gleeson Joseph G.11,Campeau Philippe M.6,Russell Bianca E.2,Houlden Henry1

Affiliation:

1. Department of Neuromuscular Disorders UCL Queen Square Institute of NeurologyUniversity College London London UK

2. Department of Pediatrics Division of Genetics University of California, Los Angeles Los Angeles CA USA

3. Pediatric Neurology and Muscular Diseases Unit IRCCS Giannina Gaslini Institute Genoa Italy

4. Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health University of Genoa Genoa Italy

5. Department of Pediatric Neurology Institute of Child HealthChildren’s Hospital Lahore Lahore Pakistan

6. Research Center Saint Justine University Hospital CenterUniversity of Montreal Montreal QC Canada

7. Department of Neuroradiology Great Ormond Street Hospital for Children London UK

8. Department of Otolaryngology‐Head and Neck Surgery Tübingen Hearing Research CenterEberhard Karls University Tübingen Germany

9. GeneDx Gaithersburg MA USA

10. Clinical Genetics Department Human Genetics and Genome Research DivisionNational Research Center Cairo Egypt

11. Department of Neuroscience Rady Children's Institute for Genomic MedicineHoward Hughes Medical InstituteUniversity of California, San Diego San Diego CA USA

Funder

Medical Research Council

Publisher

Wiley

Subject

Neurology (clinical),Neurology

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