室周异位：一个导致大脑皮质发育异常的X连锁显性癫痫位点。

Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development.

作者信息

Ekşioğlu Y Z, Scheffer I E, Cardenas P, Knoll J, DiMario F, Ramsby G, Berg M, Kamuro K, Berkovic S F, Duyk G M, Parisi J, Huttenlocher P R, Walsh C A

机构信息

Department of Neurology, Beth Israel Hospital, Harvard Medical School, Boston, Massachusetts, USA.

出版信息

Neuron. 1996 Jan;16(1):77-87. doi: 10.1016/s0896-6273(00)80025-2.

DOI:10.1016/s0896-6273(00)80025-2

PMID:8562093

Abstract

Periventricular heterotopia (PH) involves dramatic malformations of the human cerebral cortex. Here we show that PH is closely linked to markers in distal Xq28 (maximal two-point lod score = 4.77 for F8C at theta = 0; maximal multipoint lod score = 5.37), so that affected females are obligatory mosaics for the mutation; that PH is lethal to at least some affected males; that PH malformations consist of well-differentiated cortical neurons filling the adult subependymal zone; and that individuals with PH are at high risk for epilepsy, though they have no other neurological or external stigmata. The PH gene may represent an important epilepsy susceptibility locus in addition to playing a key role in normal cortical development.

摘要

室周异位（PH）涉及人类大脑皮层的严重畸形。我们在此表明，PH与Xq28远端的标记紧密相关（在θ = 0时，F8C的最大两点连锁分数 = 4.77；最大多点连锁分数 = 5.37），因此受影响的女性必然是该突变的嵌合体；PH对至少一些受影响的男性是致命的；PH畸形由填充成人室管膜下区的分化良好的皮质神经元组成；并且患有PH的个体癫痫发作风险很高，尽管他们没有其他神经学或外部特征。PH基因除了在正常皮质发育中起关键作用外，可能还代表一个重要的癫痫易感性位点。