A rare case of Yhwag gene mutation causing developmental and epileptic encephalopathy

Background: epileptic encephalopathy 56 or DEE is a rare disease characterized by early-onset treatment-refractory epilepsy accompanied by global developmental regression that has been shown to be caused by various mutations of the YWHAG gene. Case presentation: We report a novel of a heterozygo...

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Bibliographic Details
Main Authors: Karina Lidia Gheorghita, A.V. Ciurea, R.E. Rizea
Format: Article
Language:English
Published: London Academic Publishing 2023-09-01
Series:Romanian Neurosurgery
Subjects:
Online Access:http://journals.lapub.co.uk/index.php/roneurosurgery/article/view/2571