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