| TUBA1A mutation-associated lissencephaly: case report and review of the literature. | |
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MedLine Citation:
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PMID: 22264709 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Lissencephaly is a disorder of neuronal migration resulting in abnormal cerebral cortical sulcation and gyration. Affected children present with microcephaly, developmental delay, and early-onset epileptic seizures. Recently, de novo missense mutations in the tubulin α-1A (TUBA1A) gene were identified as causing a distinctive radiologic phenotype comprising of posteriorly predominant lissencephaly with dysgenetic corpus callosum, cerebellar and brainstem hypoplasia, and more recently, polymicrogyria. We describe a 14-month-old girl with TUBA1A mutation-associated lissencephaly, and summarize the clinical and neuroradiologic findings of 19 cases in the literature. |
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Authors:
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Aman P S Sohal; Tara Montgomery; Dipayan Mitra; Venkateswaran Ramesh |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: Pediatric neurology Volume: 46 ISSN: 1873-5150 ISO Abbreviation: Pediatr. Neurol. Publication Date: 2012 Feb |
Date Detail:
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Created Date: 2012-01-23 Completed Date: 2012-06-04 Revised Date: 2012-07-20 |
Medline Journal Info:
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Nlm Unique ID: 8508183 Medline TA: Pediatr Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 127-31 Citation Subset: IM |
Copyright Information:
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Copyright © 2012 Elsevier Inc. All rights reserved. |
Affiliation:
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Department of Pediatric Neurology, Great North Children's Hospital, Newcastle-upon-Tyne, UK. manusohal@rediffmail.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Brain
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abnormalities* Cell Movement / genetics Epilepsy / genetics* Female Humans Infant Lissencephaly / genetics* Phenotype Tubulin / genetics* |
| Chemical | |
Reg. No./Substance:
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0/TUBA1A protein, human; 0/Tubulin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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