BABOON MODEL FOR GENETICS OF HUMAN GENERALIZED EPILEPSY

这个子项目是利用由NIH/NCRR资助的中心拨款提供的资源的许多研究子项目之一。子项目和调查员(PI)可能从另一个NIH来源获得了主要资金，因此可能会出现在其他CRISE条目中。列出的机构是针对中心的，而不一定是针对调查员的机构。30多年前，作为人类原发全面性癫痫的非人灵长类动物模型，红狒狒(Papio Hamadryas Papio)首次被发现，至今仍是青少年肌阵挛癫痫最具特征的电临床动物模型之一。在狒狒身上很容易研究癫痫，因为这些动物对光刺激非常敏感，可以激发神经元放电和癫痫发作，而这些都是它们癫痫综合征的敏感标志。该项目的目标是开发更多种类的狒狒(P.H.阿努比斯[橄榄狒狒]，P.H.作为人类原发全面性癫痫遗传学的非人类灵长类动物模型。利用德克萨斯州圣安东尼奥西南生物医学研究基金会(SFBR)的大型、分型的狒狒家系，我们将寻找显著影响狒狒癫痫临床和脑电特征变异的基因，因此可能与人类癫痫相关。癫痫综合征相关基因的识别将涉及特定的生理和生化途径，可作为干预的靶点，并可能有助于改进现有的癫痫治疗方法和开发新的治疗方法。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The red baboon (Papio hamadryas papio) was first explored more than thirty years ago as a nonhuman primate model of primary generalized epilepsy in humans, and remains one of the best characterized electroclinical animal models for juvenile myoclonic epilepsy. Epilepsy is easily studied in the baboon because these animals are highly susceptible to photic stimulation to provoke neuronal discharges and seizures that are sensitive markers of their epileptic syndrome. The goal of this project is to develop additional species of baboon (P.h. anubis [olive baboon], P.h. cynocephalus [yellow baboon], and their hybrids) as a nonhuman primate model for the genetics of primary generalized epilepsy in humans. Using the large, genotyped baboon pedigree at Southwest Foundation for Biomedical Research (SFBR) San Antonio, TX, we will seek genes that significantly affect variation in the clinical and electroencephalographic features of epilepsy in baboons and are therefore likely to be relevant in human epilepsy. Identification of genes involved in the epilepsy syndrome will implicate specific physiological and biochemical pathways that can be targeted for intervention, and potentially contribute to improvements in existing treatments for epilepsy and the development of novel therapies.