Clinical Features and Treatment Efficacy inMutation-Related Epileptic Encephalopathy in the Infant

Annals of Child Neurology

Seung-Tae Lee¹  Jong Rak Choi¹  Joon Soo Lee²  Chung Mo Koo²  Heung Dong Kim²  Se Hee Kim²  Hoon-Chul Kang² 

[1] Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea;Department of Pediatrics, Severance Children’s Hospital, Yonsei University College of Medicine, Seoul, Korea;

关键词: spasms, infantile;    cdkl5 deficiency disorder;    epilepsy;    epileptic encephalopathy;   

DOI  :  10.26815/acn.2019.00052

来源: DOAJ

【 摘 要 】

Purpose Mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with epileptic encephalopathy and severe cognitive impairment. We aim to characterize the association between this gene and treatment efficacy. Methods We retrospectively analyzed 10 patients who were treated at Severance Children's Hospital for epileptic encephalopathy who were subsequently diagnosed with a CDKL5 mutation using next-generation sequencing. Results Electroencephalography (EEG) results showed generalized pattern abnormalities in 60% (6/10) of patients with CDKL5 mutations. We analyzed the effects of three treatments, namely antiepileptic drugs (AEDs), ketogenic diet (KD), and steroids. A more than 50% reduction in seizures was observed in 12% (1/8) of patients treated with clobazam. KD treatment proved ineffective in most cases. In addition, a more than 50% reduction in seizures was observed in 57% (4/7) of patients treated with steroids. EEG analysis of patients treated effectively with steroids revealed that 75% (3/4) showed hypsarrhythmia and 25% (1/4) showed focal epileptiform. Conclusion In this study, as in other studies, AEDs and KD did not effectively control seizures in most patients with a CDKL5 mutation. However, steroid therapy reduced the frequency of seizures in patients who also exhibited hypsarrhythmia. This suggests that steroid treatment is helpful in cases of hypsarrhythmia with CDKL5 mutations.

【 授权许可】

Unknown