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翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Northern epilepsy syndrome ： ウィキペディア英語版 Northern epilepsy syndrome Northern epilepsy syndrome or progressive epilepsy with mental retardation (EPMR) is a subtype of neuronal ceroid lipofuscinosis and a rare disease that is regarded as a Finnish heritage disease. Unlike most Finnish heritage diseases, this syndrome has been reported only in Finland.〔 page 125〕 The disease is characterized by seizures in early childhood that progressively get worse until after puberty. Once the onset of seizures occurs, mental degradation is seen. This continues into adulthood even after seizure frequency has decreased. The cause of the disease is a missense mutation in chromosome 8. The creation of a new protein occurs and the lipid content of the brain is altered because of it. The ratio of the mutation carriers is 1:135. There is nothing that has been found to stop the progression of the disease, but symptomatic approaches, such as the use of benzodiazepines, have helped control seizures.〔〔〔 ==History== Northern epilepsy originated in Northern Finland and it still appears to only affect individuals of Finnish ancestry. 1 in 10,000 individuals who live or are from the region of Kainuu in northern Finland have the condition. Northern epilepsy was not initially recognized as a Neuronal ceroid lipofuscinosis (NCL). In 1999, it was found to be the first disease identified caused by mutations in the CLN8 gene. The disease is now known as the mildest form of NCL. There are two forms of this mutated gene: 1-CLN8 and 2-CLN8. 1-CLN8 is known as Northern Epilepsy Syndrome, while 2-CLN8 is primarily from Turkish descent. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Northern epilepsy syndrome」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.