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Journal of Inborn Errors of Metabolism and Screening
Epilepsy is a common manifestation of mitochondrial disease. In a large cohort of children and adolescents with mitochondrial disease (n ¼ 180), over 48% of patients developed seizures. The majority (68%) of patients were younger than 3 years and medically intractable (90%). The electroencephalographic pattern of multiregional epileptiform discharges over the left and right hemisphere with background slowing occurred in 62%. The epilepsy syndrome, infantile spasms, was seen in 17%. Polymerase gdoi:10.1177/2326409817733012 fatcat:5ius4tqlv5h7di2y7kg6b2rbhy