Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
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DOI：
10.1056/nejmoa052773
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发表时间：
2006-03-30
影响因子：
158.5
通讯作者：
Morton, DH
中科院分区：
文献类型：
--
作者：
Strauss, KA;Puffenberger, EG;Morton, DH
接触蛋白相关蛋白样蛋白2(CASPR2)由CNTNAP2编码，在Ranvier结点聚集电压门控性钾通道(K(V)1.1)。我们报告了患有皮质发育不良、局灶性癫痫、相对巨头畸形和深肌腱反射减弱的旧式阿米什儿童的CNTNAP2纯合子突变。难治性局灶性癫痫发作始于儿童早期，之后所有儿童都出现语言退化、多动、冲动和攻击性行为以及智力低下。切除手术并不能防止癫痫的复发。颞叶标本显示神经元迁移和结构异常，广泛的星形胶质细胞增生，CASPR2表达减少。
Contactin-associated protein-like 2 (CASPR2) is encoded by CNTNAP2 and clusters voltage-gated potassium channels (K(v)1.1) at the nodes of Ranvier. We report a homozygous mutation of CNTNAP2 in Old Order Amish children with cortical dysplasia, focal epilepsy, relative macrocephaly, and diminished deep-tendon reflexes. Intractable focal seizures began in early childhood, after which language regression, hyperactivity, impulsive and aggressive behavior, and mental retardation developed in all children. Resective surgery did not prevent the recurrence of seizures. Temporal-lobe specimens showed evidence of abnormalities of neuronal migration and structure, widespread astrogliosis, and reduced expression of CASPR2.