A Case Report of KCNT1 Mutation Presenting as Isolated Apnea and Bradycardia Events (P7-1.006) – PubMed Black Hawk Supplements

Objective: Not applicable.

Background: A 5-day old male with no known perinatal complications presented with subclinical seizures as well as independent episodes of apnea with bradycardia occurring both while awake and asleep. Evaluation noted focal electrographic seizures originating from the left frontotemporal lobe without electrographic correlate to apnea and bradycardia events. MRI noted to be normal. Genetic evaluation noted a heterozygous likely pathogenic variant in KCNT1 (c.800T>C p.Met267Thr) suggesting causation of early infantile epilepsy and autonomic dysfunction. Interestingly, seizures resolved with the initiation of Levetiracetam.

Design/methods: Not applicable.

Results: Not applicable.

Conclusions: Traditionally, the differential diagnosis for full term neonatal apneic events include an immature nervous system, cerebral hemorrhage, respiratory compromise, infection, or seizure. This case emphasizes consideration for KCNT1 as an alternative cause of recurrent apnea and bradycardia episodes in neonates. It also implicates Levetiracetam as a possible successful treatment in early diagnosis of likely pathogenic KCNT1 mutations. Disclosure: Ms. Chorny has nothing to disclose. Dr. Galan has nothing to disclose.