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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2007-2-6
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pubmed:abstractText |
Subcortical band heterotopia (SBH, or double cortex syndrome) is a neuronal migration disorder consisting of heterotopic bands of gray matter located between the cortex and the ventricular surface, with or without concomitant pachygyria. Most cases show diffuse or anteriorly predominant (A>P) migration abnormality. All familial and 53% to 84% of sporadic cases with diffuse or A>P SBH harbor a mutation of the DCX gene, leaving the genetic causes unexplained, and genetic counseling problematic, in the remaining patients. Our purpose was to verify the extent to which exonic deletions or duplications of the DCX gene would account for sporadic SBH with A>P gradient but normal gene sequencing.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
1526-632X
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:day |
6
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pubmed:volume |
68
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
446-50
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:17283321-Adolescent,
pubmed-meshheading:17283321-Adult,
pubmed-meshheading:17283321-Brain,
pubmed-meshheading:17283321-Child,
pubmed-meshheading:17283321-Child, Preschool,
pubmed-meshheading:17283321-DNA Mutational Analysis,
pubmed-meshheading:17283321-DNA Probes,
pubmed-meshheading:17283321-Female,
pubmed-meshheading:17283321-Gene Deletion,
pubmed-meshheading:17283321-Genetic Predisposition to Disease,
pubmed-meshheading:17283321-Genetic Testing,
pubmed-meshheading:17283321-Humans,
pubmed-meshheading:17283321-Male,
pubmed-meshheading:17283321-Microtubule-Associated Proteins,
pubmed-meshheading:17283321-Nervous System Malformations,
pubmed-meshheading:17283321-Neuropeptides,
pubmed-meshheading:17283321-Nucleic Acid Amplification Techniques,
pubmed-meshheading:17283321-Reproducibility of Results,
pubmed-meshheading:17283321-Sensitivity and Specificity
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pubmed:year |
2007
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pubmed:articleTitle |
Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia.
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pubmed:affiliation |
Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, via Luca Giordano 13, 50123, Florence, Italy.
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pubmed:publicationType |
Journal Article,
Case Reports
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