Coffin-Siris syndrome is a rare genetic disorder defined by the presence of particular facial traits, congenital malformations, intellectual disability, and speech impairment. Epilepsy in Coffin-Siris syndrome has only occasionally been reported, and its features are poorly defined. We provide a detailed description of the clinical and instrumental findings of three patients with Coffin-Siris syndrome and epilepsy. The clinical diagnosis in our patients was confirmed by molecular analysis, which identified the presence of de novo mutations of ARID1B and SMARCB1 genes, in two patients and one patient, respectively. All the patients presented with epilepsy, with a mean age of seizure onset of 5.5 years. Seizures were brief and had a focal onset with secondary generalization. Electroencephalographic recording documented a unilateral, and less commonly bilateral, paroxysmal activity in the temporal, parietal, and occipital regions. Clinical response to anticonvulsive therapy was satisfactory, with a low rate of seizure recurrence. Our case series contributes to delineate the phenotype of Coffin-Siris syndrome. We wish this report could pave the way for further studies that will better define the prevalence and clinical manifestations of epilepsy in this rare syndrome.

Coffin-Siris综合征是一种罕见的遗传性疾病，由特定面部特征，先天性畸形，智力障碍和语言障碍定义。Coffin-Siris综合征的癫痫病仅偶尔报道，其特征定义不清。我们详细描述了三名患有棺材-Siris综合征和癫痫病患者的临床和仪器发现。通过分子分析证实了我们患者的临床诊断，该分子分析确定了分别在两名患者和一名患者中存在ARID1B和SMARCB1基因的从头突变。所有患者均出现癫痫病，平均发作年龄为5.5岁。癫痫发作是短暂的，并具有继发性泛发的局灶性发作。脑电图记录单方面 在颞部，顶叶和枕叶区域则很少发生双侧阵发性活动。抗惊厥治疗的临床反应令人满意，癫痫复发率低。我们的病例系列有助于描述科芬-西里斯综合征的表型。我们希望这份报告能为进一步研究铺平道路，以更好地确定这种罕见综合征的患病率和临床表现。