Abstracts

Rationale: Like most other chromosome disorders, 18p deletions increase the risk of birth defects, developmental delay, seizues and learning difficulties. We report the case of 18p11.32 deletion, detected by array CGH, associated with myoclonic astatic seizures, severe mental retardation and schizencephaly. Methods: In order to genetic investigation, array-CGH analysis was performed using SurePrint G3 Human CGH+SNP Microarray 4 X 180K kit (Agilent Technologies Inc., Santa Clara, CA, USA) according to manufacturer's protocol. Results: A 15-year-old male patients presented to the Department of pediatricas, at the Catholic University of Korea, for seizure activity. He is the child of nonconsanguineous healthy parents. He was born by spontaneous viginal delivery after 41weeks and he had no other perninatal complication. He showed seizures with rapid, brief contractions of muscles followed immediately by an atonic seizures. Valproic acid treatment started (up to 25mg/kg) with adequate response. A sleep EEG recording was performed displaying polyspikes-and-wave complexes. A brain MRI was performed showing the clefts was unilateral and fused lips, as in schizencephaly with cortical dysplasia. Array CGH detected a 1Mb microdeletion at 18p11.32 (142,096-1,038,964). This region encompasses 9 genes: USP14, THOC1, COLEC12, CETN1, CLUL1, TYMS, ENOSF. None of these genes except USP14 have been strictly associated with epilepsy. USP14 are expressed in fetal and adult nervous system, and this deletion have been related to central nervous system disorder. Mice with a mutation that results in reduced expression of the ortholog of this protein are retarded for growth, develop severe tremors by 2 to 3 weeks of age followed by hindlimb paralysis and death by 6 to 10 weeks of age. Parent and his elder sister did not showed deletion 18p11.32. Conclusions: USP14 may have link to the development of brain structure and epilepsy, so further studies are needed to confirm. Funding: none