Abstracts

Rationale: Chromosome 1p36 deletions, one of the most common subtelomeric deletions, affect 1 in 5000-10,000 newborns with significant heterogeneity in the phenotypic expression. Numerous studies document the genes affected and the resulting congenital abnormalities/phenotypes (seizures, global developmental delay, structural brain anomalies, and multisystem abnormalities affecting heart, kidneys, etc) with good degree of success. Epilepsy is seen in about 60% of patients with highly variable features. However, studies highlighting clinical seizure characteristics, EEG findings, treatment options, and response to therapy associated with chromosome 1p36 deletions are less common. This case series highlights the epilepsy heterogeneity amongst patients with chromosome 1p36 deletions. Methods: Electronic medical records at MUSC for patients with chromosome 1p36 deletion were retrospectively queried for seizure characteristics, EEG and MRI brain findings, treatment options, and response to standard therapies. Results: Significant heterogeneity in the seizure characteristics and effective therapies was noted in two such patients. These findings are summarized in Table 1. It was noteworthy that refractory seizures responded well to carbamazepine in one patient, which was previously reported in the literature to worsen seizures in patients with chromosome 1p36 deletions. Conclusions: Given the neurological heterogeneity, it is evident that the seizure management should be tailored to individual patients and their phenotype. As the realm of genetics grows, specific mutations will need to be identified and then therapies tailored towards individual genotypes for optimal epilepsy management. Funding: No funding