Metabolic mysteries: A child with episodic seizures and multiple diagnoses

from JIMD Podcasts · host Journal of Inherited Metabolic Disease

Dr Mrinmayee Takle and Dr Kuntal Sen discuss the challenging dilemma of a child, presenting from infancy with recurrent seizures and three different (wrong) diagnoses including opsoclonus-myoclonus-ataxia syndrome. Read the article: https://doi.org/10.1002/cns3.20098 Mrinmayee Takle, Dhwani Sahjwani, Diana Bharucha-Goebel, Tyler Rapp, Cecilia Bouska, Alexandra Kornbluh, Kuntal Sen

Episode metadata supplied by the publisher feed · Published Jun 3, 2025

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Metabolic mysteries: A child with episodic seizures and multiple diagnoses

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