Associated Papers
Identification of a Novel TRIT1 Mutation in a Consanguineous Iranian-Azeri-Turkish Family With Global Developmental Delay.
Beyad F et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025
TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels.
Muylle E et al.
Journal of Inherited Metabolic Disease, 2022
Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.
Balciuniene J et al.
Jama Network Open, 2019
Select a paper to view details