TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels
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DOI: 10.1002/jimd.12550
Abstract: TRIT1 defect is a rare, autosomal‐recessive disorder of transcription, initially described as a condition with developmental delay, myoclonic seizures, and abnormal mitochondrial function. Currently, only 13 patients have been reported. We reviewed the genetic, clinical,… read more here.
Keywords: delay strabismus; epilepsy speech; myoclonic epilepsy; speech delay ... See more keywords