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'.
2009
18 (3)
497
516
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; ...espandi
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/358186
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