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https://ahro.austin.org.au/austinjspui/handle/1/13742| Title: | PIK-ing the right gene for polymicrogyria | Austin Authors: | Scheffer, Ingrid E | Affiliation: | Florey Institute, University of Melbourne, Austin Health and Royal Children's Hospital | Issue Date: | 14-Dec-2015 | Date: | 2015-10-29 | Publication information: | The Lancet Neurology 2015, vol. 14(12) p. 1147-1148 | Abstract: | The notion that malformations of cortical development could have a genetic basis was regarded as almost ludicrous just 10 years ago. With the advent of the new genomic massively parallel sequencing technologies, the landscape has transformed. Now, genetic factors are considered first when searching for the cause of malformations of cortical development that have marked genetic and phenotypic heterogeneity. In The Lancet Neurology, Ghayda Mirzaa and colleagues2 essentially solve the genetic basis of the most common form of regional polymicrogyria—namely, bilateral perisylvian polymicrogyria (BPP). | URI: | https://ahro.austin.org.au/austinjspui/handle/1/13742 | DOI: | 10.1016/S1474-4422(15)00305-1 | Journal: | The Lancet Neurology | PubMed URL: | https://pubmed.ncbi.nlm.nih.gov/26520803 | Type: | Journal Article | Subjects: | Abnormalities, Multiple/genetics Humans Intellectual Disability/genetics Malformations of Cortical Development/genetics Mutation Phosphatidylinositol 3-Kinases/genetics |
| Appears in Collections: | Journal articles |
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