Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.
Ingrid Eileen SchefferCaitlin A BennettDeepak GillMichelle G de SilvaKirsten BoggsJustine MarumNaomi Bakernull nullElizabeth E PalmerKatherine B HowellPublished in: Developmental medicine and child neurology (2022)
The cause was identified in 35% of patients with developmental and epileptic encephalopathies. KCNQ2, CDKL5, SCN1A, and STXBP1 were the most frequently identified genes. Reanalysis of genomic data found the cause in an additional six patients. Genetic aetiology was identified in 41% of children with seizure onset under 2 years, compared to 18% with older onset. Finding the molecular cause led to management changes in 36% of patients with DEEs.
Keyphrases
- end stage renal disease
- clinical practice
- copy number
- genome wide
- ejection fraction
- newly diagnosed
- chronic kidney disease
- young adults
- peritoneal dialysis
- prognostic factors
- physical activity
- single cell
- patient reported outcomes
- dna methylation
- middle aged
- transcription factor
- gene expression
- single molecule
- artificial intelligence
- bioinformatics analysis