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'.
Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia / Ferland RJ; Batiz LF; Neal J; Lian G; Bundock E; Lu J; Hsiao Yc Diamond R; Mei D; Banham AH; Brown PJ; Vanderburg CR; Joseph J; Hecht JL; Folkerth R; Guerrini R; Walsh CA; Rodriguez EM; Sheen VL. - In: HUMAN MOLECULAR GENETICS. - ISSN 0964-6906. - STAMPA. - 18 (3):(2009), pp. 497-516. [10.1093/hmg/ddn377]
Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia
GUERRINI, RENZO;
2009
Abstract
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'.
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