Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

Affiliations

• ¹ Children's Health Research Center, Sanford Research, Sioux Falls, SD 57104, USA.
• ² Mammalian Genetics Unit, Medical Research Council Harwell, Oxfordshire OX11 ORD, UK.
• ³ Department of Basic Sciences, University of North Dakota, Grand Forks, ND 58202, USA.
• ⁴ Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.
• ⁵ Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
• ⁶ Division of Clinical & Metabolic Genetics and Genetics & Genome Biology Program, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada.
• ⁷ Division of Human Genetics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.
• ⁸ Department of Pediatrics, Security Forces Hospital, Riyadh 12625, Saudi Arabia.
• ⁹ Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh 12372, Saudi Arabia; Department of Pediatrics, The Children's Hospital, Ain Shams University, Cairo 11355, Egypt.
• ¹⁰ Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh 12372, Saudi Arabia.
• ¹¹ Institute of Neuropathology, Uniklinik RWTH Aachen, Aachen 52074, Germany.
• ¹² Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, USA.
• ¹³ Department of Clinical Genetics, VU University Medical Center, Amsterdam 1007, the Netherlands.
• ¹⁴ Department of Child Neurology and Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam 1007, the Netherlands.
• ¹⁵ Department of Child Health, University of Arizona College of Medicine, Phoenix, AZ 85004, USA; Neurogenetics Research Program, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
• ¹⁶ Department of Genetics and Yale Center for Genome Analysis, Yale School of Medicine, New Haven, CT 06516, USA.
• ¹⁷ Children's Health Research Center, Sanford Research, Sioux Falls, SD 57104, USA; Department of Child Health, University of Arizona College of Medicine, Phoenix, AZ 85004, USA; Neurogenetics Research Program, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Program in Neuroscience, Arizona State University, Tempe, AZ 85287, USA; Pediatric Movement Disorders Center, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA. Electronic address: [email protected].