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Here, we describe the case of a child carrying bi\u2010allelic mutations in <jats:italic>AFG3L2<\/jats:italic> and presenting with ictal paroxysmal episodes associated with neuroimaging suggestive of basal ganglia involvement. Studies in skin fibroblasts showed a significant reduction of AFG3L2 expression. The relatively mild clinical presentation and the benign course, in spite of severe neuroimaging features, distinguish this case from data reported in the literature, and therefore expand the spectrum of neurological and neuroradiological features associated with <jats:italic>AFG3L2<\/jats:italic> mutations.<\/jats:p>","DOI":"10.1002\/acn3.51024","type":"journal-article","created":{"date-parts":[[2020,4,1]],"date-time":"2020-04-01T22:43:12Z","timestamp":1585780992000},"page":"595-601","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Expanding the clinical and genetic heterogeneity of SPAX5"],"prefix":"10.1002","volume":"7","author":[{"given":"Claudia","family":"Dosi","sequence":"first","affiliation":[{"name":"Department of Clinical and Experimental Medicine University of Pisa Pisa 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