Pavone Piero, Spalice Alberto, Polizzi Agata, Parisi Pasquale, Ruggieri Martino
Department of Pediatrics and Pediatric Emergency Costanza Gravina, University Hospital Vittorio Emanuele-Policlinico, Catania, Italy.
Brain Dev. 2012 Jun;34(6):459-68. doi: 10.1016/j.braindev.2011.09.004. Epub 2011 Oct 2.
Ohtahara syndrome or Early Infantile Epileptic Encephalopathy (EIEE) with Suppression-Burst, is the most severe and the earliest developing age-related epileptic encephalopathy. Clinically, the syndrome is characterized by early onset tonic spasms associated with a severe and continuous pattern of burst activity. It is a debilitating and early progressive neurological disorder, resulting in intractable seizures and severe mental retardation. Specific mutations in at least four genes (whose protein products are essential in lower brain's neuronal and interneuronal functions, including mitochondrial respiratory chains have been identified in unrelated individuals with EIEE and include: (a) the ARX (aristaless-related) homeobox gene at Xp22.13 (EIEE-1 variant); (b) the CDKL5 (SYK9) gene at Xp22 (EIEE-2 variant); (c) the SLC25A22 (GC1) gene at 11p15.5 (EIEE-3 variant); and (d) the Stxbp1 (MUNC18-1) gene at 9q34-1 (EIEE-4 variant). A yet unresolved issue involves the relationship between early myoclonic encephalopathy (EME-ErbB4 mutations) versus the EIEE spectrum of disorders.
大田原综合征或伴有爆发抑制的早期婴儿癫痫性脑病（EIEE），是最严重且发病年龄最早的与年龄相关的癫痫性脑病。临床上，该综合征的特征为早期发作的强直痉挛，伴有严重且持续的爆发活动模式。它是一种使人衰弱且早期进行性发展的神经系统疾病，会导致难治性癫痫发作和严重智力迟钝。在患有EIEE的无血缘关系个体中，已鉴定出至少四个基因的特定突变（其蛋白质产物在低位脑的神经元和中间神经元功能中至关重要，包括线粒体呼吸链），这些基因包括：（a）位于Xp22.13的ARX（无尾相关）同源盒基因（EIEE-1变体）；（b）位于Xp22的CDKL5（SYK9）基因（EIEE-2变体）；（c）位于11p15.5的SLC25A22（GC1）基因（EIEE-3变体）；以及（d）位于9q34-1的Stxbp1（MUNC18-1）基因（EIEE-4变体）。一个尚未解决的问题涉及早期肌阵挛性脑病（EME - ErbB4突变）与EIEE疾病谱之间的关系。
