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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...
Autores principales: | Sakpichaisakul, Kullasate, Boonkrongsak, Rachata, Lertbutsayanukul, Punjama, Iemwimangsa, Nareenart, Klumsathian, Sommon, Panthan, Bhakbhoom, Trachoo, Objoon |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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Materias: | |
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 |
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