Diagnostic yield of a multi-strategy genetic testing procedure in a nationwide cohort of 728 patients with infantile spasms in China
Liying Liu, Qian Lü, Qiuhong Wang, Yang‐Yang Wang, Bo Zhang, Li‐Ping Zou
Topics & Concepts
HypsarrhythmiaEtiologyMedicineKabuki syndromeGenetic testingTuberous sclerosisPediatricsCohortTSC1Exome sequencingNeurofibromatosisGenetic counselingEpilepsyInternal medicineGeneticsPathologyBiologyMutationGenePsychiatryPI3K/AKT/mTOR pathwayApoptosisEpilepsy research and treatmentTuberous Sclerosis Complex ResearchFetal and Pediatric Neurological Disorders