Please use this identifier to cite or link to this item: 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
metadata.dc.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: http://ahro.austin.org.au/austinjspui/handle/1/13742
DOI: 10.1016/S1474-4422(15)00305-1
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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