Epileptic spasms related to neuronal differentiation factor 2 (NEUROD2) mutation respond to combined vigabatrin and high dose prednisolone therapy

Epileptic spasms related to neuronal differentiation factor 2 (NEUROD2) mutation respond to combined vigabatrin and high dose prednisolone therapy

Abstract Background Epileptic spasms are a devastating form of early infantile epileptic encephalopathy (EIEE) with various etiologies. Early diagnosis and a shorter lead time to treatment are crucial to stop the seizures and optimize the neurodevelopmental outcome. Genetic testing has become an int...

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Bibliographic Details
Main Authors: Kullasate Sakpichaisakul, Rachata Boonkrongsak, Punjama Lertbutsayanukul, Nareenart Iemwimangsa, Sommon Klumsathian, Bhakbhoom Panthan, Objoon Trachoo
Format: Article
Language:English
Published: BMC 2022-12-01
Series:BMC Neurology
Subjects:
Epileptic spasms
NEUROD2
Vigabatrin
Prednisolone
Whole-exome sequencing
Case report
Online Access:https://doi.org/10.1186/s12883-022-02992-9

Internet

https://doi.org/10.1186/s12883-022-02992-9

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