SCN8A Encephalopathy: Case Report and Literature Review

Neurology International

Hsiu-Fen Lee¹  Hueng-Chuen Fan²  Ching-Shiang Chi² 

[1] Department of Pediatrics, Taichung Veterans General Hospital, Taichung 40705, Taiwan;Department of Pediatrics, Tungs Taichung Metrohabor Hospital, Taichung 435403, Taiwan;

关键词: SCN8A;    SCN8A encephalopathy;    oxcarbazepine;   

DOI  :  10.3390/neurolint13020014

来源: DOAJ

【 摘 要 】

Epileptic encephalopathy is a condition resulting from extreme forms of intractable childhood epilepsy. The disease can cause severe delays in cognitive, sensory, and motor function development, in addition to being fatal in some cases. Missense mutations of SCN8A, which encodes Nav1.6, one of the main voltage-gated sodium channel subunits in neurons and muscles, have been linked to early infantile SCN8A encephalopathy. Herein, we report the case of a 5-month-old girl with SCN8A encephalopathy with a novel missense mutation. Apart from intractable seizures and autistic phenotypes, the results of blood and biochemical tests, electroencephalogram (EEG) results, and brain magnetic resonance imaging (MRI) results were all normal. As the phenotypes caused by these mutations cannot be identified by any clinical, neuroimaging, or electrophysiological features, genetic sequencing should be considered to identify the underlying genetic causes. Although phenytoin is recommended as a last-resort treatment for SCN8A encephalopathy, the administration of the oxcarbazepine, instead of phenytoin, mitigated this patient’s intractable seizures.

【 授权许可】

Unknown