Epileptic Disord. 2022 Jun 1;24(3):572-576. doi: 10.1684/epd.2022.1417.
Neonatal epilepsy, cerebellar dysgenesis and facial dysmorphisms may be associated with de novo PACS2 missense pathogenic variants (EIEE 66) (OMIM #618067). Here, we report a toddler boy with neonatal-onset seizures, developmental delay with hypotonia, facial dysmorphisms and prominence of the cisterna magna, mild inferior vermian and cerebellar hypoplasia. A nextgeneration epilepsy gene panel revealed a known pathogenic PACS2 missense variant, p.Glu209Lys, that was inherited from his mildly affected mother. We describe the first PACS2 pathogenic variant to be inherited, expanding the clinical spectrum, associated with a mild phenotype in the mother and a more severe phenotype in her son, in keeping with previously reported descriptions.
新生儿癫痫、小脑发育不良和面部畸形可能与从头发生 PACS2 错义致病性变异相关（EIEE 66）（OMIM#618067）。在这里，我们报告了一名患有新生儿期发作癫痫、发育迟缓伴肌张力低下、面部畸形和小脑蚓部、小脑明显突出的幼儿。下一代癫痫基因小组发现了一个已知的致病性 PACS2 错义变异，p.Glu209Lys，该变异是从他轻度受影响的母亲那里遗传的。我们描述了第一个被遗传的 PACS2 致病性变异，扩大了临床谱，与母亲轻度表型和儿子更严重表型相关，符合先前报道的描述。
