Article
Epileptic spasms related to neuronal differentiation factor 2 (NEUROD2) mutation respond to combined vigabatrin and high dose prednisolone therapy.
BMC neurology - 9 Dec 2022
Sakpichaisakul Kullasate, Boonkrongsak Rachata, Lertbutsayanukul Punjama, Iemwimangsa Nareenart, Klumsathian Sommon, Panthan Bhakbhoom, Trachoo Objoon
Abstract excerpt
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 part of epilepsy care that directly guides management and family planning and discovers new targeted treatments....
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