Clinical Application of Epilepsy Genetics in Africa: Is Now the Time?
Clinical Application of Epilepsy Genetics in Africa: Is Now the Time?
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DOI：
10.3389/fneur.2018.00276
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发表时间：
2018
影响因子：
3.4
通讯作者：
Wilmshurst JM
中科院分区：
文献类型：
--
作者：
Esterhuizen AI;Carvill GL;Ramesar RS;Kariuki SM;Newton CR;Poduri A;Wilmshurst JM
超过80%的癫痫患者生活在低收入和中等收入国家，由于资源有限和基础设施薄弱，癫痫往往得不到诊断和治疗。在非洲，癫痫的负担因中枢神经系统感染、围产期损伤和创伤性脑损伤等风险因素增加而加剧。尽管这些病因的发病率很高，但超过60%的非洲儿童癫痫的原因尚不清楚，这表明可能存在遗传起源。欧洲和北美的大规模遗传和基因组研究揭示了一系列癫痫表型中的新基因和变异体。这些知识与患者护理的相关性在早发性癫痫的婴儿中尤其明显，早期基因检测可以确认诊断和指导治疗，可能改善预后和生活质量。然而，在非洲，遗传性癫痫是研究最不足的神经系统疾病之一，目前对非洲患者癫痫的遗传学知之甚少。非洲大陆的多样性增加可能产生独特的，重要的癫痫相关基因型，目前缺乏北美或欧洲的诊断测试协议。在这篇综述中，我们提出，有充分的理由发展能力，提供基因检测的儿童癫痫在非洲，主要是由现有的咨询和干预需求。涉及公认的癫痫基因的初步简单方案不仅将帮助患者，而且将引起进一步的临床相关研究，从而增加知识和能力。
Over 80% of people with epilepsy live in low- to middle-income countries where epilepsy is often undiagnosed and untreated due to limited resources and poor infrastructure. In Africa, the burden of epilepsy is exacerbated by increased risk factors such as central nervous system infections, perinatal insults, and traumatic brain injury. Despite the high incidence of these etiologies, the cause of epilepsy in over 60% of African children is unknown, suggesting a possible genetic origin. Large-scale genetic and genomic research in Europe and North America has revealed new genes and variants underlying disease in a range of epilepsy phenotypes. The relevance of this knowledge to patient care is especially evident among infants with early-onset epilepsies, where early genetic testing can confirm the diagnosis and direct treatment, potentially improving prognosis and quality of life. In Africa, however, genetic epilepsies are among the most under-investigated neurological disorders, and little knowledge currently exists on the genetics of epilepsy among African patients. The increased diversity on the continent may yield unique, important epilepsy-associated genotypes, currently absent from the North American or European diagnostic testing protocols. In this review, we propose that there is strong justification for developing the capacity to offer genetic testing for children with epilepsy in Africa, informed mostly by the existing counseling and interventional needs. Initial simple protocols involving well-recognized epilepsy genes will not only help patients but will give rise to further clinically relevant research, thus increasing knowledge and capacity.
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影响因子：
64.8
作者：
Gurdasani, Deepti;Carstensen, Tommy;Tekola-Ayele, Fasil;Pagani, Luca;Tachmazidou, Ioanna;Hatzikotoulas, Konstantinos;Karthikeyan, Savita;Iles, Louise;Pollard, Martin O.;Choudhury, Ananyo;Ritchie, GrahamR. S.;Xue, Yali;Asimit, Jennifer;Nsubuga, Rebecca N.;Young, Elizabeth H.;Pomilla, Cristina;Kivinen, Katja;Rockett, Kirk;Kamali, Anatoli;Doumatey, Ayo P.;Asiki, Gershim;Seeley, Janet;Sisay-Joof, Fatoumatta;Jallow, Muminatou;Tollman, Stephen;Mekonnen, Ephrem;Ekong, Rosemary;Oljira, Tamiru;Bradman, Neil;Bojang, Kalifa;Ramsay, Michele;Adeyemo, Adebowale;Bekele, Endashaw;Motala, Ayesha;Norris, Shane A.;Pirie, Fraser;Kaleebu, Pontiano;Kwiatkowski, Dominic;Tyler-Smith, Chris;Rotimi, Charles;Zeggini, Eleftheria;Sandhu, Manjinder S.
通讯作者：
Sandhu, Manjinder S.
DOI：
10.1002/ajmg.b.32332
发表时间：
2015-10
期刊：
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
影响因子：
--
作者：
Krause A;Mitchell C;Essop F;Tager S;Temlett J;Stevanin G;Ross C;Rudnicki D;Margolis R
通讯作者：
Margolis R
影响因子：
5.1
作者：
Fendri-Kriaa, N.;Kammoun, F.;Triki, C.
通讯作者：
Triki, C.
影响因子：
26.1
作者：
Berg, Anne T.;Coryell, Jason;Koh, Sookyong
通讯作者：
Koh, Sookyong
影响因子：
168.9
作者：
Gakidou, Emmanuela;Cowling, Krycia;Murray, Christopher J. L.
通讯作者：
Murray, Christopher J. L.