TY -的T1 Cyst-like块茎与TSC2和癫痫在结节性硬化症复杂JF -神经学乔-神经病学SP - 1165 LP - 1169 - 10.1212/01. wnl.0000345365.92821.8首页6六世72 - 13盟——凯瑟琳·j·Chu-Shore AU - Philippe主要盟-玛丽亚黑山盟伊丽莎白蒂埃尔Y1 - 2009/03/31 UR - //www.ez-admanager.com/content/72/13/1165.abstract N2 -背景:结节性硬化症(TSC)是一个复杂的遗传条件特点是hamartomatous病变的存在在多个器官,包括大脑的块茎。大多数的TSC患者患有癫痫症。一些结节癫痫灶,而其他人似乎生理静止。还不知道块茎形态学的差异也许可以解释这种差异。本研究的目标是确定的频率cyst-like块茎TSC患者,是否cyst-like块茎与TSC基因型,以及是否cyst-like皮质结节与婴儿痉挛症的历史相关联,癫痫,或难治性癫痫。方法:回顾性图表回顾173 TSC患者。MRI图像进行评估的存在至少一个cyst-like皮质块茎。病人图表然后综述了基因突变,婴儿痉挛症的历史,癫痫,癫痫耐火材料超过三个药物。结果:总共有46%的患者至少有一个cyst-like皮质块茎在神经影像。TSC2突变的患者更有可能比TSC1突变患者cyst-like块茎(p = 0.002)或没有突变患者(p = 0.039)。 Patients with at least one cyst-like cortical tuber were more likely to have a history of infantile spasms (p = 0.00005), epilepsy (p = 0.0038), and refractory epilepsy (p = 0.0007) than patients without a cyst-like cortical tuber. Conclusion: Cyst-like cortical tubers are strongly associated with TSC2 gene mutation and a more aggressive seizure phenotype in patients with tuberous sclerosis complex. CaMD=calmodulin binding domain; CCD=coiled-coil domain; CI=confidence interval; ERM=Ezrin–radixin–moesin; FLAIR=fluid-attenuated inversion recovery; FSE=fast spin-echo; GAP=GTPase activating protein; LZD=leucine zipper domain; NEX=number of excitations; NMI=no disease-associated mutation identified; TAD=transcription activating domain; TE=echo time; TMD=transmembrane domain; TR=repetition time; TSC=tuberous sclerosis complex. ER -