@article {AppavuP5.156,作者={布莱恩Appavu娜塔莉Guido-Estrada和克里斯汀Lindstrom马修Troester}, title = {Electroclinical表型和结果在TBC1D24-Related癫痫(P5.156)},体积={86}={16}补充数量,elocation-id = {P5.156} ={2016},出版商= {Wolters Kluwer健康,公司代表美国神经病学学会},文摘={目的:我们描述的一系列小说TBC1D24突变患者四个变量Electroclinical表型。首页背景:TBC1D24是一种新近发现的,常染色体隐性基因突变导致表型变化多端,从医学上难治性癫痫non-syndromic听力损失。癫痫表现型文学中描述包括家族性小儿肌肉阵挛性癫痫、恶性迁移部分癫痫发作在婴儿期,和门综合症(耳聋、onychodystrophy、骨营养不良、智障和癫痫发作)。方法:在凤凰IRB回顾性图表审查批准儿童医院{\ textquoteright}年代癫痫患者TBC1D24突变有关。数据包括基因突变、年龄、性别、人口、癫痫发作的特点,治疗,和发展和扣押的结果。结果:四个孩子TBC1D24-related癫痫被确定。三个孩子是女性,另一个是男性。两个不相关的纳瓦霍人的孩子进行新颖的化合物的杂合突变遗传变性(c.121C \ > T;p。Gln41Ter c.321T \ >一个; p.Asn107Lys), and two Hispanic siblings carried novel compound heterozygote mutations inherited in trans (c.845C\>G; p.Pro282Arg and c.919A\>G; p.Asn307Asp). Seizure onset ranged from day one of birth to three months of age. All patients had seizure semiologies consisting of prolonged unilateral focal clonic activity of the arm, leg or face in addition to generalized tonic clonic convulsions. Ictal EEG recordings included epilepsia partialis continua, malignant migrating seizures in infancy, and unihemispheric status epilepticus. All patients had developmental delays and deceleration of head growth. The two Navajo patients experienced super-refractory status epilepticus at 8-9 months of age, and one passed away as a result. The two Hispanic siblings remain with medically intractable epilepsy at 15 and 23 months. Conclusions: We report four patients with novel mutations to TBC1D24, demonstrating medically-intractable focal epilepsy, developmental delays, head growth deceleration and varied EEG findings that expand the existing electroclinical phenotypes of seizures associated with this condition.Disclosure: Dr. Appavu has nothing to disclose. Dr. Guido-Estrada has nothing to disclose. Dr. Lindstrom has nothing to disclose. Dr. Troester has nothing to disclose.Wednesday, April 20 2016, 8:30 am-7:00 pm}, issn = {0028-3878}, URL = {//www.ez-admanager.com/content/86/16_Supplement/P5.156}, eprint = {//www.ez-admanager.com/content}, journal = {Neurology} }