Objective: To describe a homogeneous subtype of periventricular nodular heterotopia (PNH) as part of a newly defined malformation complex. Methods: Observational study including review of brain MRI and clinical findings of a cohort of 50 patients with PNH in the temporo-occipital horns and trigones, mutation analysis of the FLNA gene, and anatomopathologic study of a fetal brain.

Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis / Pisano T; Barkovich AJ; Leventer RJ; Squier W Scheffer IE; Parrini E; Blaser S; Marini C; Robertson S; Tortorella G; Rosenow F; Thomas P; McGillivray G; Andermann E; Andermann F; Berkovic SF; Dobyns WB; Guerrini R.. - In: NEUROLOGY. - ISSN 0028-3878. - STAMPA. - 79:(2012), pp. 1244-1251. [10.1212/WNL.0b013e31826aac88]

Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis.

Marini C;GUERRINI, RENZO
2012

Abstract

Objective: To describe a homogeneous subtype of periventricular nodular heterotopia (PNH) as part of a newly defined malformation complex. Methods: Observational study including review of brain MRI and clinical findings of a cohort of 50 patients with PNH in the temporo-occipital horns and trigones, mutation analysis of the FLNA gene, and anatomopathologic study of a fetal brain.
2012
79
1244
1251
Pisano T; Barkovich AJ; Leventer RJ; Squier W Scheffer IE; Parrini E; Blaser S; Marini C; Robertson S; Tortorella G; Rosenow F; Thomas P; McGillivray G; Andermann E; Andermann F; Berkovic SF; Dobyns WB; Guerrini R.
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/747926
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