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The syndrome is genetically and phenotypically heterogeneous. Causal mutations have been identified in four genes: <jats:italic>SLC20A2<\/jats:italic>, <jats:italic>PDGFRB<\/jats:italic>, <jats:italic>PDGFB<\/jats:italic> and <jats:italic>XPR1<\/jats:italic>. A variety of progressive neurological and psychiatric symptoms have been described, including cognitive impairment, movement disorders, bipolar disorder, chronic headaches and migraine, and epilepsy. Here we describe a family with a novel <jats:italic>SLC20A2<\/jats:italic> mutation mainly presenting with neurological symptoms including cortical myoclonus and epilepsy. While epilepsy, although rare, has been reported in patients with IBGC associated with <jats:italic>SLC20A2<\/jats:italic> mutations, cortical myoclonus seems to be a new manifestation.<\/jats:p>","DOI":"10.1007\/s00415-020-09821-4","type":"journal-article","created":{"date-parts":[[2020,4,9]],"date-time":"2020-04-09T17:02:43Z","timestamp":1586451763000},"page":"2221-2227","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Cortical myoclonus and epilepsy in a family with a new SLC20A2 mutation"],"prefix":"10.1007","volume":"267","author":[{"given":"Antonietta","family":"Coppola","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Hernandez-Hernandez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simona","family":"Balestrini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Krithika","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicholas","family":"Moran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Blake","family":"Hale","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carla","family":"Cordivari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanjay M.","family":"Sisodiya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,4,9]]},"reference":[{"key":"9821_CR1","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1159\/000365216","volume":"14","author":"L Brighina","year":"2014","unstructured":"Brighina L, Saracchi E, Ferri F, Gagliardi M, Tarantino P, Morzenti S, Musarra M, Patassini M, Annesi G, Ferrarese C (2014) Fahr\u2019s disease linked to a novel SLC20A2 gene mutation manifesting with dynamic aphasia. 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