Department of Genetics, Hôpital Côte de Nacre, Caen, France.
Am J Med Genet A. 2013 Oct;161A(10):2582-7. doi: 10.1002/ajmg.a.36085. Epub 2013 Aug 8.
West syndrome is a well-recognized form of epilepsy, defined by a triad of infantile spasms, hypsarrhythmia and developmental arrest. West syndrome is heterogenous, caused by mutations of genes ARX, STXBP1, KCNT1 among others; 16p13.11 and 17q21.31 microdeletions are less frequent, usually associated with intellectual disability and facial dysmorphism. So-called "idiopathic" West syndrome is of better prognostic, without prior intellectual deficiency and usually responsive to anti-epileptic treatment. We report on a boy falling within the scope of idiopathic West syndrome, with no dysmorphic features and normal development before the beginning of West syndrome, with a good resolution after treatment, bearing a de novo 15q13.3 microdeletion. Six genes are located in the deleted region, including CHRNA7, which encodes a subunit of a nicotinic acetylcholine receptor, and is frequently associated with epilepsy. Exploration of the 15q13.3 region should be proposed in idiopathic West syndrome.
婴儿痉挛症是一种公认的癫痫形式，其特征为婴儿痉挛、高度失律和发育停滞三联征。婴儿痉挛症具有异质性，由 ARX、STXBP1、KCNT1 等基因突变引起；16p13.11 和 17q21.31 微缺失较为少见，通常伴有智力障碍和面部畸形。所谓“特发性”婴儿痉挛症预后较好，无先前智力缺陷，通常对抗癫痫治疗有反应。我们报告了一例特发性婴儿痉挛症患儿，无畸形特征，在婴儿痉挛症发作前发育正常，经治疗后得到很好的缓解，携带新发的 15q13.3 微缺失。缺失区域包含六个基因，包括编码烟碱型乙酰胆碱受体亚单位的 CHRNA7 基因，该基因常与癫痫有关。在特发性婴儿痉挛症中，应探索 15q13.3 区域。
