mTORC1 inhibition for epilepsy in TSC: Feasibility in question

被引：1
|
作者：
Sparagana, Steven P. [1 ,2 ]
机构：
[1] Texas Scottish Rite Hosp Children, Div Neurol, Dallas, TX 75219 USA
[2] Univ Texas Southwestern Med Sch, Dept Neurol & Neurotherapeut, Dallas, TX 75390 USA
来源：
NEUROLOGY | 2016年 / 87卷 / 10期
关键词：
TUBEROUS SCLEROSIS COMPLEX; GIANT-CELL ASTROCYTOMAS; EVEROLIMUS;
D O I：
10.1212/WNL.0000000000003073
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Clinical signs and symptoms have been used to diagnose and define tuberous sclerosis complex (TSC), with the first description being that of the Vogt triad (epilepsy, intellectual disability, and facial angiofibromas).(1) The clinical criteria to diagnose TSC no longer include epilepsy and intellectual disability, and have been further expanded. Presence of a disease-causing mutation in TSC1 or TSC2 (the genes involved in TSC) is now included as an independent diagnostic criterion.(2</SUP)
引用
收藏
页码：974 / 975
页数：2
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