AIM To differentiate phenotypic features of individuals with CDKL5 deficiency disorder (CDD) from those of individuals with other infantile-onset epilepsies. METHOD We performed a retrospective cohort study and ascertained individuals with CDD and comparison individuals with infantile-onset epilepsy who had epilepsy gene panel testing. We reviewed records, updated variant classifications, and compared phenotypic features. Wilcoxon rank-sum tests and χ2 or Fisher's exact tests were performed for between-cohort comparisons. RESULTS We identified 137 individuals with CDD (110 females, 80.3%; median age at last follow-up 3 year 11 months) and 313 individuals with infantile-onset epilepsies (156 females, 49.8%; median age at last follow-up 5 years 2 months; 35% with genetic diagnosis). Features reported significantly more frequently in the CDD group than in the comparison cohort included developmental and epileptic encephalopathy (81% vs 66%), treatment-resistant epilepsy (95% vs 71%), sequential seizures (46% vs 6%), epileptic spasms (66% vs 42%, with hypsarrhythmia in 30% vs 48%), regression (52% vs 29%), evolution to Lennox-Gastaut syndrome (23% vs 5%), diffuse hypotonia (72% vs 36%), stereotypies (69% vs 11%), paroxysmal movement disorders (29% vs 17%), cerebral visual impairment (94% vs 28%), and failure to thrive (38% vs 22%). INTERPRETATION CDD, compared with other suspected or confirmed genetic epilepsies presenting in the first year of life, is more often characterized by a combination of treatment-resistant epilepsy, developmental and epileptic encephalopathy, sequential seizures, spasms without hypsarrhythmia, diffuse hypotonia, paroxysmal movement disorders, cerebral visual impairment, and failure to thrive. Defining core phenotypic characteristics will improve precision diagnosis and treatment.

中文翻译：

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CDKL5 缺乏症和其他婴儿期发病的遗传性癫痫。

目的 将 CDKL5 缺乏症 (CDD) 患者的表型特征与其他婴儿期癫痫患者的表型特征区分开来。方法 我们进行了一项回顾性队列研究，确定了患有 CDD 的个体，并与进行了癫痫基因组检测的婴儿期癫痫患者进行了比较。我们审查了记录，更新了变异分类，并比较了表型特征。对队列间比较进行 Wilcoxon 秩和检验和 χ2 或 Fisher 精确检验。结果 我们确定了 137 名 CDD 患者（110 名女性，80.3%；最后一次随访时的中位年龄 3 年 11 个月）和 313 名婴儿期癫痫患者（156 名女性，49.8%；最后一次随访时的中位年龄 5 年） 2个月；35%有基因诊断）。CDD 组中报告的频率明显高于对照组，包括发育性和癫痫性脑病（81% vs 66%）、难治性癫痫（95% vs 71%）、连续性癫痫发作（46% vs 6%）、癫痫痉挛（66% vs 42%，高度心律失常分别为 30% vs 48%）、退化（52% vs 29%）、演变为 Lennox-Gastaut 综合征（23% vs 5%）、弥漫性肌张力减退（72% vs 36%） 、刻板印象（69% vs 11%）、阵发性运动障碍（29% vs 17%）、脑视力障碍（94% vs 28%）和发育迟缓（38% vs 22%）。解释 与出生后第一年出现的其他疑似或确诊的遗传性癫痫相比，CDD 更常见的特征是难治性癫痫、发育性和癫痫性脑病、连续性癫痫发作、无高度心律失常的痉挛、弥漫性肌张力低下、阵发性运动障碍。 、脑视力障碍和发育迟缓。定义核心表型特征将提高诊断和治疗的精准度。