Partial status epilepticus ?Rapid genetic diagnosis of Alpers?disease

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• 作者：Blá ; thnaid  ; McCoy^a ;   ; ^d ; Cormac  ; Owens^a ; Rachel  ; Howley^c ; Stephanie  ; Ryan^b ; Mary  ; King^a ; Michael A.  ; Farrell^c ; Bryan J.  ; Lynch^a ;   ; ^{bryan.lynch@cuh.ie}
• 关键词：Alpers&rsquo ; disease ; Status epilepticus ; Genetics ; Mitochondrial
• 刊名：European Journal of Paediatric Neurology
• 出版年：2011
• 出版时间：November 2011
• 年：2011
• 卷：15
• 期：6
• 页码：558-562
• 全文大小：428 K

文摘

We describe four children with a devastating encephalopathy characterised by refractory focal seizures and variable liver dysfunction. We describe their electroencephalographic, radiologic, genetic and pathologic findings. The correct diagnosis was established by rapid gene sequencing. POLG1 based Alpers?disease should be considered in any child presenting with partial status epilepticus.