新型变异 ANKRD11 基因突变与 KBG 综合征表型耐药癫痫相关.
关键词: ANKRD11 gene mutation Adolescence Combined generalized and focal epilepsy Drug-resistant epilepsy Genetic epilepsy KBG syndrome
Mesh : Humans Drug Resistant Epilepsy / genetics Repressor Proteins / genetics Phenotype Intellectual Disability / genetics Mutation Facies Male Female Abnormalities, Multiple / genetics Child Bone Diseases, Developmental / genetics Megalencephaly / genetics Tooth Abnormalities
来 源: DOI:10.1016/j.pediatrneurol.2024.03.011