Ohtahara syndrome with emphasis on recent genetic discovery

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• 作者：Piero Pavone^a ; ^{ppavone@unict.it} ; Alberto Spalice^b ; Agata Polizzi^c ; Pasquale Parisi^d ; Martino Ruggieri^e
• 关键词：Ohtahara syndrome ; Infantile epileptic encephalopathy ; EEG Suppression-burst ; ARX ; CDKL5 ; SLC25A22 ; Stxbp1
• 刊名：Brain and Development
• 出版年：2012
• 期刊代码：40_03877604
• 类别：med
• 出版时间：June, 2012
• 卷：34
• 期：6
• 页码：459-468
• 文件大小：832 K

摘要

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鈥檚 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.