Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy.

Brain & Development
Ji-Hoon NaHoon-Chul Kang

Abstract

Early-onset developmental and epileptic encephalopathy (DEE) is characterized by repeated seizures beginning within 3 months of birth and severe interictal epileptiform discharge, including burst suppression. This study assessed the utility of targeted gene panel sequencing in the genetic diagnosis of this disease. Targeted gene panel sequencing was performed in 150 early infantile-onset DEE patients (≤3 months of age), and we extensively reviewed their clinical characteristics, including therapeutic efficacy, according to genotype. Of the early infantile-onset DEE patients, 70 were neonatal-onset DEE and the other 80 patients began experiencing seizures from 1 to 3 months after birth. There were 11 different pathogenic or likely pathogenic variants among 34.7% (52/150) of patients with early infantile-onset DEE, in whom KCNQ2, STXBP1, CDKL5, and SCN1A were the major pathogenic variants. Among the neonatal-onset DEE patients, pathological genes were identified in 42.9% (30/70), indicating a significantly higher diagnostic yield than in 27.5% (22/80) of patients who experienced seizure onset 1 to 3 months after birth (p = 0.048). Among the neonatal-onset DEE group, variants in KCNQ2, STXBP1, and CDKL5 were detected at high frequ...Continue Reading

Citations

Feb 20, 2021·Frontiers in Neurology·Regina Trollmann
Apr 4, 2021·Journal of Medical Genetics·Stephanie BoetsSarah Weckhuysen
Apr 24, 2021·Molecular Psychiatry·Priscilla D NegraesAlysson R Muotri
Jun 25, 2021·Frontiers in Neurology·Xianyu LiuJing Chen

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