{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T05:52:02Z","timestamp":1789710722727,"version":"4.0.1"},"reference-count":15,"publisher":"Georg Thieme Verlag KG","issue":"06","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital bilateral perisylvian syndrome (CBPS) is a rare neurological disorder associated with typical clinical and imaging features such as bilateral symmetrical polymicrogyria, either exclusively or mainly affecting the perisylvian region of the brain. We present a girl with the typical clinical picture of a CBPS and a complex migration disorder, predominantly presenting as bilateral symmetrical polymicrogyria associated with corpus callosum hyperplasia, ventricular dilation, and pontine hypoplasia. At the age of 6 months, the girl showed a profound global developmental delay, seizures refractory to treatment, and severe oromotor dysfunction. Exome analysis revealed a de novo mutation in microtubule-associated serine\/threonine kinase 1 (MAST1). Recently, mutations in this gene were described in six patients with a cortical migration disorder named mega-corpus-callosum syndrome with cerebellar hypoplasia. Although all patients present the clinical and imaging features of CBPS, a clear assignment between CBPS and MAST1 mutations has not been reported yet.<\/jats:p>","DOI":"10.1055\/s-0040-1710588","type":"journal-article","created":{"date-parts":[[2020,8,20]],"date-time":"2020-08-20T19:37:52Z","timestamp":1597952272000},"page":"435-439","source":"Crossref","is-referenced-by-count":10,"title":["The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation"],"prefix":"10.1055","volume":"51","author":[{"given":"Laura","family":"Hecher","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessika","family":"Johannsen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatjana","family":"Bierhals","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan-Hendrik","family":"Buhk","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"Hempel","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonas","family":"Denecke","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2020,8,20]]},"reference":[{"issue":"05","key":"ref1","doi-asserted-by":"crossref","first-page":"632","DOI":"10.1002\/ana.410200513","article-title":"Developmental Foix-Chavany-Marie syndrome in identical twins","volume":"20","author":"N R Graff-Radford","year":"1986","journal-title":"Ann Neurol"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1016\/0140-6736(93)90363-L","article-title":"Congenital bilateral perisylvian syndrome: study of 31 patients. 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