ABSTRACT
OBJECTIVE: To investigate the clinical phenotype of children with early-onset epileptic encephalopathy and dyskinesia. METHODS: The patients with early onset epileptic encephalopathy and dyskinesia were enrolled from September 2013 to September 2017. The clinical data was retrospectively analyzed. RESULTS: A total of 5 children with early onset epileptic encephalopathy with dyskinesia were collected. Including 1 male and 4 females. 1 case of dyskinesia showed dancing-like movements,2 cases of dyslexia,ataxia mixed,1 case of limb tremor accompanied by wrist alternating twisting action,1 case of muscle tension associated with tremor,speech is unclear. 4 cases were positive for 1 genotype,1 case was mutation of SCN1A gene,2 cases were PRRT2 gene mutation,1 case was SLC2A1 gene mutation. After treatment,2 cases of seizure control effect is good,3 cases of poor results. CONCLUSION: Early onset epileptic encephalopathy with dyskinesia is easy misdiagnosed as epileptic seizures. Genetic associated with the pathogenic genes are mostly reported in the previous gene,PRRT2 gene,SLC2A1 gene mutation. Early onset of epilepsy with dyskinesia caused by SCN1A gene mutation has rarely been reported in the literature. Some children enjoy good results.