Article (Scientific journals)
L'heterotopie nodulaire periventriculaire. Un cas pediatrique.
Ebetiuc, Iula; BULK, Saskia; LEROY, Patricia
2019In Revue Médicale de Liège, 74 (7-8), p. 388-390
 

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Keywords :
Child; Epilepsy/etiology; Humans; Magnetic Resonance Imaging; Male; Periventricular Nodular Heterotopia/complications/diagnostic imaging; Epilepsy; Mental retardation; Periventricular nodular heterotopia
Abstract :
[en] Periventricular nodular heterotopia (PVNH) is a cerebral cortex malformation, due to a deletion/duplication in the FLNA gene, located on the chromosome X. The gene is coding a cytoskeleton protein. The transmission is dominant. It enters the heterogeneous group of philaminopathies. There is a feminine predominance. Males most often show early lethality. The clinical presentation is characterised by a seizure disorder ranging from mild to intractable, a mental retardation, hypotonia, cardiovascular abnormalities, vasculopathy and/or coagulopathy leading to stroke. The surveillance must be made by a pluridisciplinary team and the genetic counseling is necessary. We present here a paediatric case.
Disciplines :
Genetics & genetic processes
Author, co-author :
Ebetiuc, Iula ;  Université de Liège - ULiège > Département des sciences cliniques > Département des sciences cliniques
BULK, Saskia ;  Centre Hospitalier Universitaire de Liège - CHU > Unilab > Clinique de génétique
LEROY, Patricia ;  Centre Hospitalier Universitaire de Liège - CHU > Département de Pédiatrie > Service de pédiatrie
Language :
French
Title :
L'heterotopie nodulaire periventriculaire. Un cas pediatrique.
Alternative titles :
[en] Periventricular nodular heterotopia : a pediatric case
Publication date :
2019
Journal title :
Revue Médicale de Liège
ISSN :
0370-629X
eISSN :
2566-1566
Publisher :
Université de Liège. Revue Médicale de Liège, Liège, Belgium
Volume :
74
Issue :
7-8
Pages :
388-390
Available on ORBi :
since 07 January 2020

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