Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.
Department of Neurology, University Hospital, Antwerp, Belgium.
Epileptic Disord. 2023 Aug;25(4):445-453. doi: 10.1002/epd2.20026. Epub 2023 Jun 22.
The self-limited (familial) epilepsies with onset in neonates or infants, formerly called benign familial neonatal and/or infantile epilepsies, are autosomal dominant disorders characterized by neonatal- or infantile-onset focal motor seizures and the absence of neurodevelopmental complications. Seizures tend to remit during infancy or early childhood and are therefore called "self-limited". A positive family history for epilepsy usually suggests the genetic etiology, but incomplete penetrance and de novo inheritance occur. Here, we review the phenotypic spectrum and the genetic architecture of self-limited (familial) epilepsies with onset in neonates or infants. Using an illustrative case study, we describe important clues in recognition of these syndromes, diagnostic steps including genetic testing, management, and genetic counseling.
新生儿或婴儿期起病的自限性（家族性）癫痫，以前称为良性家族性新生儿和/或婴儿癫痫，是一种常染色体显性遗传疾病，其特征为新生儿或婴儿期起病的局灶性运动性癫痫发作，且无神经发育并发症。癫痫发作往往在婴儿期或幼儿期缓解，因此称为“自限性”。癫痫的阳性家族史通常提示遗传病因，但存在不完全外显和新生突变。在此，我们综述了新生儿或婴儿期起病的自限性（家族性）癫痫的表型谱和遗传结构。通过一个实例研究，我们描述了识别这些综合征的重要线索，包括基因检测、管理和遗传咨询在内的诊断步骤。
