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KMID : 1151120190270020033
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Annals of Child Neurology
2019 Volume.27 No. 2 p.33 ~ p.37
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Clinical Features and Treatment Efficacy in CDKL5 Mutation-Related Epileptic Encephalopathy in the Infant
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Koo Chung-Mo
Kim Se-Hee
Kim Heung-Dong
Lee Joon-Soo
Choi Jong-Rak
Lee Seung-Tae
Kang Hoon-Chul
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Abstract
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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.
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KEYWORD
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Spasms, infantile, CDKL5 deficiency disorder, Epilepsy, Epileptic encephalopathy
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