Copy number variants across the developmental epilepsy-developmental and epileptic encephalopathy spectrum: an Indonesian case series.
Agung Triono, Gunadi, Elisabeth Siti Herini
✦ AI-curated · Sources linked
Case in brief
A retrospective series from a tertiary hospital in Yogyakarta described four Indonesian children with developmental epilepsy or developmental and epileptic encephalopathy and pathogenic copy number variants. Their presentations included early-onset seizures, developmental delay or intellectual impairment, and abnormal EEG and/or neuroimaging. Genetic testing identified a 2q24.3 deletion involving SCN1A in a child with Dravet syndrome and 15q11.2-q13.1 deletions involving UBE3A in three children with clinical features of Angelman syndrome. Whole-genome sequencing or chromosomal microarray further characterized the variants.
What made this case unusual
The series documents these CNV-associated epilepsy and neurodevelopmental presentations in Indonesian children, a population for which the authors note limited data.
Diagnostic / clinical pearl
When sequencing identifies a suspected pathogenic CNV in a child with epilepsy and developmental impairment, confirmatory whole-genome sequencing or chromosomal microarray can further characterize the finding.
Why it matters
The cases add clinical and molecular data from an underrepresented Southeast Asian population and illustrate complementary roles for sequencing and chromosomal analysis.