Article
Self-limited Neonatal Epilepsy associated with global developmental delay and high-threshold sensory profile: A novel KCNQ3 de novo variant unusually located in the voltage sensor S4 segment of the Kv7.3 channel subunit.
Seizure - 1 May 2026
Mangano Giuseppe Donato, Di Pasquale Gabriele, Comisi Francesco Fabrizio, Angileri Vita Maria, Antona Vincenzo, Duca Vincenzo, Salpietro Vincenzo, Mangano Giuseppa Renata
Abstract excerpt
BACKGROUND: Pathogenic variants in KCNQ2 and KCNQ3 are established causes of self-limited neonatal epilepsy (SeLNE). While over 300 KCNQ2 variants have been reported, the number of KCNQ3 variants is increasing, with an expanding phenotypic spectrum including Developmental and Epileptic Encephalopathy (DEE), Intellectual Disability (ID), and Autism Spectrum Disorder (ASD). In a single case study, we report the...
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