Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans
The present report is the first to use phenotypic analysis of a knockout mouse to identify a gene associated with an X-linked human brain malformation, and concludes that mutation of ARX causes XLAG.
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel
It is concluded that a small polyglutamine expansion in the human α1A calcium channel is most likely the cause of a newly classified autosomal dominant spinocerebellar ataxia, SCA6.
doublecortin , a Brain-Specific Gene Mutated in Human X-Linked Lissencephaly and Double Cortex Syndrome, Encodes a Putative Signaling Protein
A developmental and genetic classification for malformations of cortical development: update 2012
- A. Barkovich, R. Guerrini, R. Kuzniecky, G. Jackson, W. Dobyns
- Medicine, BiologyBrain : a journal of neurology
- 16 March 2012
This review addresses recent changes in the perception of malformations of cerebral cortical development and proposes a modified classification based upon updates in the knowledge of cerebral cortex development.
Mutations in filamin 1 Prevent Migration of Cerebral Cortical Neurons in Human Periventricular Heterotopia
A developmental and genetic classification for malformations of cortical development
- A. Barkovich, R. Kuzniecky, G. Jackson, R. Guerrini, W. Dobyns
- Biology, MedicineNeurology
- 27 December 2005
A revised classification based on the stage of development at which cortical development was first affected is proposed, using genotype, rather than phenotype, as the basis for classifying disorders wherever the genotype–phenotype relationship is adequately understood.
Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric Clinicians
It is concluded that congenital Zika syndrome is a recognizable pattern of structural anomalies and functional disabilities secondary to central and, perhaps, peripheral nervous system damage that can help determine essential follow-up and ongoing care for affected infants and children.
Recurrent 16p11.2 microdeletions in autism.
This work reports the first frequency, breakpoint, bioinformatic and phenotypic analyses of a de novo 16p11.2 microdeletion that represents one of the most common recurrent genomic disorders associated with autism to date.
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
- D. Beltrán-Valero de Bernabé, S. Currier, H. Brunner
- BiologyAmerican Journal of Human Genetics
- 1 November 2002
Immunohistochemical analysis of muscle from patients with POMT1 mutations corroborated the O-mannosylation defect, as judged by the absence of glycosylation of alpha-dystroglycan.
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Exome sequencing identified de novo germline or postzygotic mutations in three core components of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway, highlighting the central role of PI3K-AKT signaling in vascular, limb and brain development.