Abstract：
We herein report a novel de novo KCNH5 variant in a patient with refractory epileptic encephalopathy. The patient exhibited seizures at 1 year and 7 months old, which gradually worsened, leading to a bedridden status. Brain magnetic resonance imaging (MRI) showed cerebral atrophy and cerebellar hypoplasia. A trio whole-exome sequence analysis identified a de novo heterozygous c.640A>C, p.Lys214Gln variant in KCNH5 that was predicted to be deleterious. Recent studies have linked KCNH5 to various epileptic encephalopathies, with many patients showing normal MRI findings. The present case expands the clinical spectrum of the disease, as it is characterized by severe neurological prognosis, cerebral atrophy, and cerebellar hypoplasia.
摘要：
我们在此报告了难治性癫痫性脑病患者的新型从头KCNH5变体。患者在1岁零7个月时出现癫痫发作，逐渐恶化，导致卧床不起。脑磁共振成像（MRI）显示脑萎缩和小脑发育不全。三重全外显子组序列分析确定了从头杂合c.640A>C，KCNH5中的p.Lys214Gln变体被预测为有害的。最近的研究已经将KCNH5与各种癫痫性脑病联系起来，许多患者表现出正常的MRI表现。本病例扩大了该疾病的临床范围，因为它的特点是严重的神经系统预后，脑萎缩,和小脑发育不全.
