PRRT2 Mutations Are the Major Cause of Benign Familial Infantile Seizures
PRRT2 Mutations Are the Major Cause of Benign Familial Infantile Seizures
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DOI：
10.1002/humu.22126
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发表时间：
2012-10-01
期刊：
影响因子：
3.9
通讯作者：
Weber, Yvonne G.
中科院分区：
文献类型：
--
作者：
Schubert, Julian;Paravidino, Roberta;Weber, Yvonne G.
在阵发性运动诱发性运动障碍（PKD）和伴有舞蹈手足徐动症的婴儿惊厥（PKD伴婴儿癫痫发作）中已经描述了PRRT 2的突变，最近在一些仅患有良性家族性婴儿癫痫发作（BFIS）的家族中也有报道。我们分析了PRRT 2在49个家庭和3个散发病例BFIS只有意大利，德国，土耳其和日本的起源，并确定了先前描述的突变c.649dupC在一个不稳定的系列9胞嘧啶发生在我们的39个家庭和一个散发病例（77%的索引病例）。此外，在其他三个家族中发现了三种新的突变，而我们的索引病例中有17%没有显示PRRT 2突变，包括一个迟发性BFIS和热性惊厥的大家族。我们的研究进一步确定PRRT 2是BFIS单独的主要基因。Mutat 33：1439-1443，2012. (C)2012 Wiley Periodicals，Inc.
Mutations in PRRT2 have been described in paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with choreoathetosis (PKD with infantile seizures), and recently also in some families with benign familial infantile seizures (BFIS) alone. We analyzed PRRT2 in 49 families and three sporadic cases with BFIS only of Italian, German, Turkish, and Japanese origin and identified the previously described mutation c.649dupC in an unstable series of nine cytosines to occur in 39 of our families and one sporadic case (77% of index cases). Furthermore, three novel mutations were found in three other families, whereas 17% of our index cases did not show PRRT2 mutations, including a large family with late-onset BFIS and febrile seizures. Our study further establishes PRRT2 as the major gene for BFIS alone. Hum Mutat 33:1439-1443, 2012. (C) 2012 Wiley Periodicals, Inc.