Seizure · 2026
Neonatal-onset epileptic encephalopathy with lissencephaly associated with a SCN3A variant: The first case in Korea and literature review.
СтатьяКлинический случайОбзорНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Lee Hyun A, Kim Seong Wan, Choi Seoheui, Lee Jang Hoon, Park Moon Sung, Yu Rita, Suh Yoong-A
Аннотация
PURPOSE: Pathogenic variants inSCN3A, encoding the voltage-gated sodium channel Naᵥ1.3, have been implicated in early infantile epileptic encephalopathy (EIEE) and cortical malformations. We report the first Korean case of SCN3A-related EIEE and discuss its contribution to the expanding phenotypic spectrum.
METHODS: Clinical features, electroencephalography (EEG), brain magnetic resonance imaging (MRI), treatment response, and outcomes were analyzed. A literature review of previously reported SCN3A cases was performed for phenotypic comparison.
RESULTS: A female neonate developed tonic seizures 7 h after birth. EEG showed multifocal epileptiform discharges with burst-suppression patterns. Brain MRI demonstrated diffuse cortical thickening consistent with the lissencephaly-pachygyria spectrum and corpus callosum dysgenesis. Despite multiple antiseizure medications, seizures remained intractable. Profound bulbar dysfunction required gastrostomy, tracheostomy, and home ventilation. Next-generation sequencing identified a heterozygous SCN3A c.2624T>C (p.Ile875Thr) variant, previously reported as pathogenic and associated with gain-of-function effects. The patient died at 6 months of age.
CONCLUSION: This first Korean case of SCN3A-related EIEE caused by the recurrent p.Ile875Thr variant highlights a severe neonatal phenotype characterized by early-onset refractory seizures, profound cortical malformations, and early mortality. The case broadens both the phenotypic and geographic spectrum of SCN3A-associated neurodevelopmental disorders and underscores the importance of early genetic testing in neonates with refractory seizures and cortical malformations.
METHODS: Clinical features, electroencephalography (EEG), brain magnetic resonance imaging (MRI), treatment response, and outcomes were analyzed. A literature review of previously reported SCN3A cases was performed for phenotypic comparison.
RESULTS: A female neonate developed tonic seizures 7 h after birth. EEG showed multifocal epileptiform discharges with burst-suppression patterns. Brain MRI demonstrated diffuse cortical thickening consistent with the lissencephaly-pachygyria spectrum and corpus callosum dysgenesis. Despite multiple antiseizure medications, seizures remained intractable. Profound bulbar dysfunction required gastrostomy, tracheostomy, and home ventilation. Next-generation sequencing identified a heterozygous SCN3A c.2624T>C (p.Ile875Thr) variant, previously reported as pathogenic and associated with gain-of-function effects. The patient died at 6 months of age.
CONCLUSION: This first Korean case of SCN3A-related EIEE caused by the recurrent p.Ile875Thr variant highlights a severe neonatal phenotype characterized by early-onset refractory seizures, profound cortical malformations, and early mortality. The case broadens both the phenotypic and geographic spectrum of SCN3A-associated neurodevelopmental disorders and underscores the importance of early genetic testing in neonates with refractory seizures and cortical malformations.