Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy
Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy
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DOI：
10.1684/epd.2018.0988
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发表时间：
2018-08-01
影响因子：
2.3
通讯作者：
Lion-Francois, Laurence
中科院分区：
文献类型：
--
作者：
Pons, Linda;Lesca, Gaetan;Lion-Francois, Laurence
SCN8A脑病是一种新定义的癫痫性脑病，由SCN8A基因的从头突变引起。我们在此报告一名四岁男童，表现为严重的非癫痫异常运动，可能为先天发病，进行性与耐药癫痫和退化相关，与新生的SCN8A杂合性错义突变相关。本病例表明，阵发性非癫痫发作的严重震颤和强迫症样惊厥和显著的植物成分可作为严重SCN8A发育性和癫痫性脑病的首发症状。临床医生应该意识到这些症状，以避免误诊，并确保早期适当的治疗措施。[随视频序列发布在www.alecticdisorders.com上]。
SCN8A encephalopathy is a newly defined epileptic encephalopathy caused by de novo mutations of the SCN8A gene. We report herein a four-year-old boy presenting with severe non-epileptic abnormal movements, of possibly antenatal onset, progressively associated with pharmacoresistant epilepsy and regression, associated with a de novo heterozygous missense mutation of SCN8A. This case shows that paroxysmal non-epileptic episodes of severe tremor and hyperekplexia-like startles and a striking vegetative component can be the first early symptoms of severe SCN8A developmental and epileptic encephalopathy. Clinicians should be aware of these symptoms in order to avoid misdiagnosis and ensure early appropriate therapeutic management. [Published with video sequences on www.epilepticdisorders.com].