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Complete resolution of epileptic spasms with vigabatrin in a patient with 3‐methylglutaconic aciduria caused by <scp> <i>TIMM50</i> </scp> gene mutation

Ali Mir, Safeya Hadab, Mohammed Sammak, Rami Alhazmi, Yousef Housawi, Shahid Bashir

2020Clinical Genetics12 citationsDOI

Topics & Concepts

VigabatrinMutationEpilepsyMedicineGeneticsGenePediatricsEndocrinologyInternal medicineBiologyAnticonvulsantPsychiatryMitochondrial Function and PathologyATP Synthase and ATPases ResearchRNA and protein synthesis mechanisms
Complete resolution of epileptic spasms with vigabatrin in a patient with 3‐methylglutaconic aciduria caused by <scp> <i>TIMM50</i> </scp> gene mutation | Litcius