Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene

Affiliations

• ¹ Department of Translational Medical Sciences, Child Neurology, University of Naples Federico II, Naples, Italy.
• ² Pediatric Neurology and Psychiatric, Department of Pediatric Neurosciences, Santobono-Pausilipon Children's Hospital, Naples, Italy.
• ³ Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy.
• ⁴ Human Genetic Laboratory, "G. Gaslini" Institute, University of Genoa, Genoa, Italy.
• ⁵ Department of Translational Medical Sciences, University of Naples Federico II, and Telethon Institute of Genetics and Medicine, Naples, Italy.
• ⁶ Epilepsy Centre, Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
• ⁷ Pediatric Neurology and Muscular Diseases Unit, Departments of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, "G. Gaslini" Institute, University of Genoa, Genoa, Italy.
• ⁸ Department of Translational Medical Sciences, Child Neurology, University of Naples Federico II, Naples, Italy. [email protected].