Novel DCX pathogenic variant in a girl with subcortical band heterotopia

Novel DCX pathogenic variant in a girl with subcortical band heterotopia

Subcortical band heterotopia (SBH), is a brain malformation defined by symmetrical and bilateral heterotopic gray matter bands localized deep within the white matter, between the cortex and lateral ventricles. SBH is the result of abnormal neuronal migration, with improper positioning of the cortica...

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Bibliographic Details
Main Authors: Papuc Sorina Mihaela, Budisteanu Magdalena, Erbescu Alina, Ionescu Virgil, Iliescu Catrinel, Sandu Carmen, Arghir Aurora
Format: Article
Language:English
Published: Sciendo 2022-07-01
Series:Romanian Journal of Laboratory Medicine
Subjects:
sanger sequencing
seizures
band heterotopia
brain magnetic resonance
abnormal cortical development
Online Access:https://doi.org/10.2478/rrlm-2022-0031

Internet

https://doi.org/10.2478/rrlm-2022-0031

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