Neonate with developmental and epileptic encephalopathy 81 (DEE81): lessons learnt and future implications.

Abstract

Developmental and epileptic encephalopathy 81 (DEE81) presents a complex challenge in diagnosis and management due to its rarity and diverse clinical manifestations. Here, we report the case of a neonate born from a consanguineous marriage, presenting with refractory focal seizures shortly after birth. Despite initial treatment with multiple antiepileptics, seizures persisted, prompting a thorough diagnostic evaluation. Through advanced genomic testing, a homozygous nonsense variant in the DMXL2 gene was identified, leading to the diagnosis of DEE81. This case underscores the importance of considering genetic aetiologies in neonates with early-onset seizures and highlights the value of targeted genetic analysis in guiding personalised management strategies. Our findings contribute to the understanding of DEE81 and emphasise the need for collaborative efforts to improve diagnostic accuracy and therapeutic interventions for affected individuals.