Authorship
EP performed neurological and developmental assessment, revised the manuscript, and gave final approval of the version to be submitted. GS collected and analyzed the clinical data, and drafted the manuscript. MG contributed to clinical management of the patient and interpretation of the genetic data. MS contributed to clinical management of the patient, and in drafting the manuscript. GC conceptualized the study, performed genetic assessment, revised the manuscript and gave final approval of the version to be submitted.