Rubinstein–Taybi syndrome (RSTS) is a rare genetic disorder characterized by facial dysmorphism, broad thumbs and halluces, and intellectual disabilities [1]. EEG abnormalities are more frequent than epilepsy/seizures [2], and the specific types of seizures are often poorly defined in RSTS. Epilepsy with myoclonic absences (EMA) is a rare childhood-onset epilepsy syndrome diagnosed by distinctive seizure patterns and EEG findings [3]. EMA is occasionally attributed to genetic factors and can be caused by chromosomal abnormalities or pathogenic variants in single genes [Supplementary References S1, S2].
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MAY
MAY
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