Document Detail


TUBA1A mutation-associated lissencephaly: case report and review of the literature.
MedLine Citation:
PMID:  22264709     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Aman P S Sohal; Tara Montgomery; Dipayan Mitra; Venkateswaran Ramesh
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Pediatric neurology     Volume:  46     ISSN:  1873-5150     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2012 Feb 
Date Detail:
Created Date:  2012-01-23     Completed Date:  2012-06-04     Revised Date:  2012-07-20    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  127-31     Citation Subset:  IM    
Copyright Information:
Copyright © 2012 Elsevier Inc. All rights reserved.
Affiliation:
Department of Pediatric Neurology, Great North Children's Hospital, Newcastle-upon-Tyne, UK. manusohal@rediffmail.com
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MeSH Terms
Descriptor/Qualifier:
Brain / abnormalities*
Cell Movement / genetics
Epilepsy / genetics*
Female
Humans
Infant
Lissencephaly / genetics*
Phenotype
Tubulin / genetics*
Chemical
Reg. No./Substance:
0/TUBA1A protein, human; 0/Tubulin

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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