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We present four apparently unrelated patients with a unique association of PMG with dystonia. The clinical, genetic, and radiologic features are described and possible mechanisms of dystonia are discussed. All patients were female and two were born to consanguineous families. All presented with early childhood onset dystonia. Other neurologic symptoms and signs classically seen in bilateral perisylvian PMG were observed, including oromotor dysfunction and speech abnormalities ranging from dysarthria to anarthria (4\/4), pyramidal signs (3\/4), hypotonia (3\/4), postnatal microcephaly (1\/4), and seizures (1\/4). Neuroimaging showed a unique pattern of bilateral PMG with an infolded cortex originating primarily from the perisylvian region in three out of four patients. Whole exome sequencing was performed in two out of four patients and did not reveal pathogenic variants in known genes for cortical malformations or movement disorders. The dystonia seen in our patients is not described in bilateral PMG and suggests an underlying mechanism of impaired connectivity within the motor network or compromised cortical inhibition. The association of bilateral PMG with dystonia in our patients may represent a new neurogenetic disorder.<\/jats:p>","DOI":"10.1002\/ajmg.a.61795","type":"journal-article","created":{"date-parts":[[2020,8,28]],"date-time":"2020-08-28T03:14:25Z","timestamp":1598584465000},"page":"2207-2213","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4401-5952","authenticated-orcid":false,"given":"Michal M.","family":"Andelman\u2010Gur","sequence":"first","affiliation":[{"name":"Sackler School of Medicine Tel\u2010Aviv University  Tel\u2010Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard J","family":"Leventer","sequence":"additional","affiliation":[{"name":"Department of Neurology Royal Children's Hospital  Melbourne Australia"},{"name":"Murdoch Children's Research Institute  Melbourne Australia"},{"name":"Department of Pediatrics University of Melbourne  Melbourne Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad","family":"Hujirat","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit Emek Medical Center  Afula Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christos","family":"Ganos","sequence":"additional","affiliation":[{"name":"Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology University College London  London UK"},{"name":"Department of Neurology Charit\u00e9 University Hospital Berlin  Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keren","family":"Yosovich","sequence":"additional","affiliation":[{"name":"Metabolic\u2010Neurogenetic Clinic Wolfson Medical Center  Holon Israel"},{"name":"Rina Mor Institute of Medical Genetics Wolfson Medical Center  Holon Israel"},{"name":"Molecular Genetics Laboratory Wolfson Medical Center  Holon Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nirit","family":"Carmi","sequence":"additional","affiliation":[{"name":"Child Development Center Maccabi Health Services  Bnei Brak Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorit","family":"Lev","sequence":"additional","affiliation":[{"name":"Sackler School of Medicine Tel\u2010Aviv University  Tel\u2010Aviv Israel"},{"name":"Metabolic\u2010Neurogenetic Clinic Wolfson Medical Center  Holon Israel"},{"name":"Rina Mor Institute of Medical Genetics Wolfson Medical Center  Holon Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreea","family":"Nissenkorn","sequence":"additional","affiliation":[{"name":"Sackler School of Medicine Tel\u2010Aviv University  Tel\u2010Aviv Israel"},{"name":"Pediatric Neurology Unit Wolfson Medical Center  Holon Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7681-2844","authenticated-orcid":false,"given":"William B.","family":"Dobyns","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Neurology University of Washington  Seattle Washington USA"},{"name":"Center for Integrative Brain Research Seattle Children's Research Institute  Seattle Washington USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kailash","family":"Bhatia","sequence":"additional","affiliation":[{"name":"Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology University College London  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tally","family":"Lerman\u2010Sagie","sequence":"additional","affiliation":[{"name":"Sackler School of Medicine Tel\u2010Aviv University  Tel\u2010Aviv Israel"},{"name":"Metabolic\u2010Neurogenetic Clinic Wolfson Medical Center  Holon Israel"},{"name":"Pediatric Neurology Unit Wolfson Medical Center  Holon Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lubov","family":"Blumkin","sequence":"additional","affiliation":[{"name":"Sackler School of Medicine Tel\u2010Aviv University  Tel\u2010Aviv Israel"},{"name":"Metabolic\u2010Neurogenetic Clinic Wolfson Medical Center  Holon Israel"},{"name":"Pediatric Neurology Unit Wolfson Medical Center  Holon Israel"},{"name":"Pediatric Movement Disorders Service Wolfson Medical Center  Holon Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,8,17]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00234-009-0644-2"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2009.02436.x"},{"key":"e_1_2_7_4_1","first-page":"1814","article-title":"Syndromes of bilateral symmetrical polymicrogyria","volume":"20","author":"Barkovich A. 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