Sibling cases of DEPDC5-related developmental and epileptic encephalopathy successfully treated with lacosamide

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Abstract

Background

DEPDC5 is a causative gene for various familial focal epilepsies. We report the cases of two Japanese sisters with DEPDC5-related epilepsy presenting as developmental and epileptic encephalopathy (DEE) that were successfully treated with lacosamide as add-on therapy.

Patients

The elder sister had focal tonic seizures at 3 years 10 months old. Long-term video-electroencephalography (EEG) monitoring disclosed that she also had atypical absence seizures with asymmetric generalized slow spike-and-wave complexes, leading to a diagnosis of Lennox-Gastaut syndrome (LGS). Zonisamide, levetiracetam, and sodium valproate (VPA) failed to resolve her seizures, but subsequent lacosamide (LCM) treatment effectively stopped them. At 4 years and 6 months of age, her development was normal. Her younger sister had experienced epileptic spasms at 4 months of age. Her interictal EEG showed hypsarrhythmia, leading to a diagnosis of infantile epileptic spasms syndrome (IESS). VPA was partially effective at decreasing her epileptic spasms, and an add-on therapy of LCM finally suppressed her seizures with normalization of her EEG. At 1 year and 2 months of age, she had developed normally without seizures. The two sisters' brain MRI findings eventually became unremarkable. Trio-based whole-exome sequencing identified a heterozygous germline variant in the DEPDC5 gene (NM_001242896: exon37: c.3751delT: p.F1251fs) in both sisters and their asymptomatic mother, illustrating the variant's incomplete penetrance.

Conclusion

The DEPDC5 variant can be causative for LGS and IESS with no malformations of cortical development. LCM may be effective for drug-resistant DEPDC5-related DEE.
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拉科沙胺成功治疗DEPDC5相关发育性癫痫脑病的同胞病例
背景DEPDC5是多种家族性局灶性癫痫的致病基因。我们报告了两例日本姐妹的病例,她们均患有与 DEPDC5 相关的癫痫,表现为发育性癫痫性脑病(DEE),并使用拉科酰胺作为附加疗法获得成功。长期的视频脑电图(EEG)监测显示,她还伴有非典型失神发作和不对称的全身性慢速尖波综合征,因此被诊断为伦诺克斯-加斯托特综合征(LGS)。唑尼沙胺、左乙拉西坦和丙戊酸钠(VPA)未能缓解她的癫痫发作,但随后的拉科萨胺(LCM)治疗有效地阻止了癫痫发作。4 岁 6 个月时,她的发育正常。她的妹妹在 4 个月大时曾经历过癫痫痉挛。她的发作间期脑电图显示低节律,因此被诊断为婴儿癫痫痉挛综合征(IESS)。VPA 对减少她的癫痫痉挛有部分效果,LCM 的附加疗法最终抑制了她的癫痫发作,并使她的脑电图恢复正常。一岁零两个月时,她发育正常,没有癫痫发作。两姐妹的脑部核磁共振成像结果最终变得无异常。基于三重全外显子组测序在两姐妹及其无症状的母亲体内发现了 DEPDC5 基因的杂合子种系变异(NM_001242896: exon37: c.3751delT: p.F1251fs),说明该变异具有不完全渗透性。LCM可能对耐药的DEPDC5相关DEE有效。
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