癲癇基因檢測產(chǎn)品手冊

癲癇癲癇（epilepsy）是大腦神經(jīng)元突發(fā)性異常放電，導(dǎo)致短暫的大腦功能的一種慢性疾病。2005國際抗癲癇（ILAE）對癲癇的定義為：癲癇是一種腦部疾患，其特點是持續(xù)存在能產(chǎn)生癲癇發(fā)作的腦部持久性改變，并出現(xiàn)相應(yīng)的神經(jīng)生物學(xué)﹑認知﹑心理學(xué)以及社會學(xué)等方面的，癲癇的確定要求至少一次癲癇發(fā)作[1,2]。據(jù)國際抗癲癇流行病學(xué)報告顯示，全世界大約有6500萬的人口受到癲癇的困擾[4]，其中接近80%的人發(fā)展中國家[3]。根據(jù)世界衛(wèi)生組織在2012年出具的報告可知，發(fā)展中國家的癲癇患病率高于發(fā)達國家，其中發(fā)展中國家患病率為4‰-10‰，發(fā)達國家患病率在萬分之四到萬分之七[3]。一項對亞洲人群癲癇流行病學(xué)的，亞洲國家的癲癇患病率在1.5‰-14‰，低于拉丁美洲和撒哈拉以南的非洲發(fā)展中國家；發(fā)病年齡段主要為青少年和老年，男女患者所占比例差別不大[5]。傷，中樞神經(jīng)系統(tǒng)，以及遺傳和變異。在以往的研究中發(fā)現(xiàn)了一些能夠直接導(dǎo)致患病的突變。其中離子通道和神經(jīng)遞質(zhì)受體的突變癲癇：利用目標區(qū)域捕獲技術(shù)對400多個癲癇相關(guān)進行檢GLUT1deficiencysyndromeGLUT1deficiencysyndromeAmishinfantileepilepsyDravetsyndrome,modifierCerebralcreatinedeficiencysyndromeCerebralcreatinedeficiencysyndrome高熱驚厥，性，4Febrileseizures,familial,高熱驚厥，性，8Febrileseizures,familial,Spinalmuscularatrophywithprogressivemyoclonic性高熱驚厥，11Febrileseizures,familial,性高熱驚厥，3AFebrileseizures,familial,性高熱驚厥，3BFebrileseizures,familial,性顳葉癲癇，1Epilepsy,familialtemporallobe,1，autosomal性顳葉癲癇，5Epilepsy,familialtemporallobe,2AEpilepsy,progressivemyoclonic2AandLundborgdiseasePME1)Epilepsy,progressivemyoclonic1A(Unverrichtand進行性肌陣攣性癲癇，1BEpilepsy,progressivemyoclonic進行性肌陣攣性癲癇，3Epilepsy,progressivemyoclonic3,withorintracellular進行性肌陣攣性癲癇，5Epilepsy,progressivemyoclonic進行性肌陣攣性癲癇，6Epilepsy,progressivemyoclonicEpilepsy,progressivemyoclonic2BEpilepsy,progressivemyoclonic4,withorwithout良性性嬰兒癲癇，2Seizures,benignfamilialinfantile,良性性嬰兒癲癇，3Seizures,benignfamilialinfantile,良性新生兒癲癇，1Seizures,benignneonatal,良性新生兒癲癇，2Seizures,benignneonatal,type全面性癲癇伴高熱驚厥，1Epilepsy,generalized,withfebrileseizuresplus,type全身性癲癇，伴高熱驚厥，3Epilepsy,generalized,withfebrileseizuresplus,typeEpilepsy,generalized,withfebrileseizuresplus,typeEpilepsy,generalized,withfebrileseizuresplus,typeGeneralizedepilepsyandparoxysmal夜間額葉癲癇，1Epilepsy,nocturnalfrontallobe,夜間額葉癲癇，3Epilepsy,nocturnalfrontallobe,夜間額葉癲癇，4Epilepsy,nocturnalfrontallobe,type夜間額葉癲癇，5Epilepsy,nocturnalfrontallobe,嬰兒性肌陣攣性癲severemyoclonicepilepsyinEpilepticencephalopathy,earlyinfantile,Epilepticencephalopathy,earlyinfantile,Epilepticencephalopathy,earlyinfantile,Epilepticencephalopathy,earlyinfantile,Epilepticencephalopathy,earlyinfantile,早期嬰兒癲癇性腦病，3Epilepticencephalopathy,earlyinfantile,早期嬰兒癲癇性腦病，4Epilepticencephalopathy,earlyinfantile,早期嬰兒癲癇性腦病，5Epilepticencephalopathy,earlyinfantile,早期嬰兒癲癇性腦病，9Epilepticencephalopathy,earlyinfantile,早期嬰兒型癲癇性腦病，17Epilepticencephalopathy,earlyinfantile,早期嬰兒型癲癇性腦病，19Epilepticencephalopathy,earlyinfantile,早期嬰兒型癲癇性腦病，1Epilepticencephalopathy,earlyinfantile,早期嬰兒型癲癇性腦病，24Epilepticencephalopathy,earlyinfantile,Epilepticencephalopathy,earlyinfantile,早期嬰兒型癲癇性腦病，7Epilepticencephalopathy,earlyinfantile,早期嬰兒型癲癇性腦病，8Epilepticencephalopathy,earlyinfantile,目標區(qū)域捕獲技術(shù)是通過一系列的寡核苷酸探針與全組DNA雜交對特定SNP位點以幫助尋找許多復(fù)雜疾病相關(guān)及位點。干冰、室溫放置不超過3天過2年，反復(fù)凍融不超過5次溶液：-202FisherRS,BoasWE,BlumeW,etal.Epilepticseizuresandepilepsy:definitionsproposedbytheInternationalLeagueAgainstEpilepsy(ILAE)andtheInternationalBureauforEpilepsy(IBE)[J].Epilepsia,2005,46(4):470-472.王學(xué)峰.癲癇定義及分類:歷史,內(nèi)涵,新觀念[J].中華全科醫(yī)師,2007,6(12):711-WorldHealthOrganization.Epilepsy:FactSheets.October2012.RetrievedJanuary24,DavidJ.Thurman,EttoreBeghi,CharlesE.Begley,et.al.Standardsforepidemiologicstudiesandsurveillanceofepilepsy.Epilepsia,52(Suppl.7):2–26,2011TuLuongMac,Duc-SiTran,FabriceQuet,et.al.Epidemiology,aetiology,andclinicalmanagementofepilepsyinAsia:asystematicreview.LancetNeurol.2007Jun;6(6):533-43OttmanR,HiroseS,JainS,etal.Genetictestingintheepilepsies—reportoftheILAEGeneticsCommission[J].Epilepsia,2010,51(4):655-670.Tara