Since chromosomal analysis or karyotype testing is not a routine investigation when epilepsy first presents, the diagnosis of r(20) syndrome may be delayed or go unrecognized. We ask that you please consider chromosomal analysis if you have a patient (age 0-17) with the following symptoms:

• normal childhood development until onset of epilepsy
• medically refractory epilepsy with no etiology identified
• predominantly complex partial seizures
• Lennox-Gastaut-like features with no etiology identified
• frequent subtle nocturnal seizures (SNS) and/or subtle nocturnal frontal lobe seizures (SNFL)
• EEG showing prolonged high voltage frontally dominant slowing intermixed with spikes or sharp waves
• EEG showing overlapping features of continuous slow spike and wave discharges in sleep (CSWS) and electrical status epilepticus in sleep (ESES)
• no family history of chromosomal anomaly
• no dysmorphism or other congenital malformations
• cognitive impairment/learning difficulties/mild retardation