Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review

Affiliations

• ¹ Unit of Child Neuropsychiatry, IRCSS Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health, University of Genoa, Genoa, Italy.
• ² Laboratory of Neurogenetics and Neuroscience, IRCSS Istituto Giannina Gaslini, Genoa, Italy.
• ³ Unit of Paediatric Neurology and Muscular Diseases, IRCSS Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa, Genoa, Italy.
• ⁴ Centre of Traslational and Experimental Myology, IRCSS Istituto Giannina Gaslini, Genoa, Italy.
• ⁵ Neuroradiology Unit, IRCSS Istituto Giannina Gaslini, Genoa, Italy.
• ⁶ Unit of Child Neuropsychiatry, Epilepsy Centre, Department of Medical and Surgical Neuroscience and Rehabilitation, IRCSS Istituto Giannina Gaslini, Genoa, Italy. Electronic address: margheritamancardi@gaslini.org.