<scp>TRIT1</scp> defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels
Ewout Muylle(KU Leuven), Éva Morava(Institut thématique Génétique, génomique et bioinformatique), Wasantha Ranatunga(Mayo Clinic), Akhilesh Pandey(Mayo Clinic), Christin Johnsen(University of Göttingen), Graeme Preston(Mayo Clinic), Kishore Garapati(Manipal Academy of Higher Education), Roman M. Zenka(Mayo Clinic), Tamás Kozicz(Mayo Clinic in Florida), Huafang Jiang(Capital Medical University), Fang Fang(Capital Medical University), Seul Kee Byeon(Mayo Clinic in Arizona)
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