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

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 integral pa...

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Detalles Bibliográficos
Autores principales: Sakpichaisakul, Kullasate, Boonkrongsak, Rachata, Lertbutsayanukul, Punjama, Iemwimangsa, Nareenart, Klumsathian, Sommon, Panthan, Bhakbhoom, Trachoo, Objoon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9733267/
https://www.ncbi.nlm.nih.gov/pubmed/36494631
http://dx.doi.org/10.1186/s12883-022-02992-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9733267/
https://www.ncbi.nlm.nih.gov/pubmed/36494631
http://dx.doi.org/10.1186/s12883-022-02992-9

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