Baulac Stéphanie
Sorbonne Universités, UPMC Univ Paris 06, UM 75, Paris, France; INSERM, U1127, Paris, France; CNRS, UMR 7225, Paris, France; Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.
Prog Brain Res. 2014;213:123-39. doi: 10.1016/B978-0-444-63326-2.00007-7.
Rare multiplex families with autosomal dominant focal epilepsies have been described with specific age-related and electroclinical syndromes: autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), familial temporal lobe epilepsy (FTLE), and familial focal epilepsy with variable foci (FFEVF). Molecular genetic advances in inherited focal epilepsies have pinpointed their genetic heterogeneity and the fact that they are mediated by different biological pathways: ion channel subunit genes have been linked to ADNFLE (CHRNA4, CHRNA2, CHRNB2, and KCNT1, encoding, respectively, the α4, α2, and β2 subunits of the neuronal nicotinic acetylcholine receptor, and a potassium channel subunit); neuronal secreted protein (LGI1-encoding epitempin) has been linked to autosomal dominant epilepsy with auditory features; and mTORC1-repressor DEPDC5 (DEP domain-containing protein 5) gene has recently been reported in a broad spectrum of inherited focal epilepsies (ADNFLE, FTLE, FFEVF). This chapter focuses on DEPDC5, a newly identified gene.
已有文献报道了罕见的常染色体显性局灶性癫痫复合家系，伴有特定的年龄相关和电临床综合征：常染色体显性夜间额叶癫痫（ADNFLE）、家族性颞叶癫痫（FTLE）以及灶性多变的家族性局灶性癫痫（FFEVF）。遗传性局灶性癫痫的分子遗传学进展已明确了其遗传异质性以及它们由不同生物学途径介导这一事实：离子通道亚基基因与ADNFLE相关（CHRNA4、CHRNA2、CHRNB2和KCNT1，分别编码神经元烟碱型乙酰胆碱受体的α4、α2和β2亚基以及一种钾通道亚基）；神经元分泌蛋白（编码epitempin的LGI1）与具有听觉特征的常染色体显性癫痫相关；mTORC1抑制因子DEPDC5（含DEP结构域蛋白5）基因最近在广泛的遗传性局灶性癫痫（ADNFLE、FTLE、FFEVF）中被报道。本章重点关注新发现的基因DEPDC5。
