Department of Neonatology, VU University Medical Center , Amsterdam , Netherlands.
Department of Medical Genetics, University Medical Center , Utrecht , Netherlands.
Front Pediatr. 2014 Dec 19;2:136. doi: 10.3389/fped.2014.00136. eCollection 2014.
Neonatal convulsions are clinical manifestations in a heterogeneous group of disorders with different etiology and outcome. They are attributed to several genetic causes.
We describe a patient with intractable neonatal seizures who died from respiratory compromise during a status epilepticus.
This case report provides electroencephalogram (EEG), MRI, genetic analysis, and neuropathological data. Genetic analysis revealed a de novo heterozygous missense mutation in the KCNQ2 gene, which encodes a subunit of a voltage-gated potassium channel. KCNQ2 gene mutation is associated with intractable neonatal seizures. EEG, MRI, data as well as mutation analysis have been described in other KCNQ2 cases. Post-mortem neuropathological investigation revealed mild malformation of cortical development with increased heterotopic neurons in the deep white matter compared to an age-matched control subject. The new finding of this study is the combination of a KCNQ2 mutation and the cortical abnormalities.
KCNQ2 mutations should be considered in neonates with refractory epilepsy of unknown cause. The mild cortical malformation is an important new finding, though it remains unknown whether these cortical abnormalities are due to the KCNQ2 mutation or are secondary to the refractory seizures.
新生儿惊厥是一组具有不同病因和预后的异质性疾病的临床表现。它们归因于几个遗传原因。
我们描述了一名患有难治性新生儿癫痫发作的患者，在癫痫持续状态期间因呼吸衰竭而死亡。
该病例报告提供了脑电图（EEG）、MRI、基因分析和神经病理学数据。基因分析显示 KCNQ2 基因的新生杂合错义突变，该基因编码电压门控钾通道的亚基。KCNQ2 基因突变与难治性新生儿癫痫发作有关。已经描述了其他 KCNQ2 病例的 EEG、MRI、数据和突变分析。尸检神经病理学研究显示，与年龄匹配的对照相比，深部白质中存在轻度皮质发育畸形和异位神经元增多。本研究的新发现是 KCNQ2 突变和皮质异常的结合。
对于原因不明的难治性癫痫发作的新生儿，应考虑 KCNQ2 突变。轻度皮质畸形是一个重要的新发现，尽管尚不清楚这些皮质异常是由于 KCNQ2 突变还是继发于难治性癫痫发作。
