Advances in genetic etiology, diagnosis and treatment of developmental and epileptic encephalopathy.

Abstract excerpt

Developmental and epileptic encephalopathy (DEE) is a clinically and genetically heterogeneous group of age-dependent neurological disorders characterized by onset of refractory seizures in infancy or early childhood and affected individuals with delayed or regressive psychomotor development. With the development of next-generation sequencing technology, especially the application of whole-exome sequencing...

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• Brain Diseases
• Child, Preschool
• High-Throughput Nucleotide Sequencing
• Mutation