Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia.

Journal article

Periventricular heterotopia (PH) is a disorder characterized by neuronal nodules, ectopically positioned along the lateral ventricles of the cerebral cortex. Mutations in either of two human genes, Filamin A (FLNA) or ADP-ribosylation factor guanine exchange factor 2 (ARFGEF2), cause PH (Fox et al. in 'Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia'. Neuron, 21, 1315-1325, 1998; Sheen et al. in 'Mutations in ARFGEF2 implicate vesicle...

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Authors: Ferland, R; Batiz, L; Neal, J; Lian, G; Bundock, E

• Publication status: Published
• Journal: Human molecular genetics
• Volume: 18
• Issue: 3
• Pages: 497-516
• Publication date: 2009-02-01
• DOI: 10.1093/hmg/ddn377
• EISSN: 1460-2083
• ISSN: 0964-6906
• Language: English
• Keywords: Periventricular Nodular Heterotopia; Adult; Cerebral Ventricles; Infant, Newborn; Microfilament Proteins; Animals; Guanine Nucleotide Exchange Factors; Aged, 80 and over; Mice; Female; Male; Neurons; Soluble N-Ethylmaleimide-Sensitive Factor Attachment Proteins; Humans; Filamins; Cell Movement; Cell Adhesion; Contractile Proteins; Stem Cells; Mice, Transgenic