PCDH19-related epilepsy and Dravet Syndrome: Face-off between two early-onset epilepsies with fever sensitivity
PCDH19-related epilepsy and Dravet Syndrome: Face-off between two early-onset epilepsies with fever sensitivity
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DOI：
10.1016/j.eplepsyres.2016.05.015
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发表时间：
2016-09-01
影响因子：
2.2
通讯作者：
Specchio, Nicola
中科院分区：
文献类型：
--
作者：
Trivisano, Marina;Pietrafusa, Nicola;Specchio, Nicola
本研究的目的是比较PCDH19相关性癫痫和德雷特综合征(DS)，以找出这两种发热敏感型婴儿癫痫之间的差异。与Fisher‘s精确检验或学生t检验进行比较。女性在PCDH19相关癫痫中占优势。DS组癫痫起病早(5.0±2.1个月比11.2±7.0个月；P<；0.05)。第二次发作/丛集发生在PCDH19相关性癫痫的潜伏期较长之后(10.1+/-13.6个月比2.2+/-2.1个月；p<；0.05)。DS组以单次和长时间发作为主，PCDH19相关癫痫以短暂和丛集性发作为主。肌阵挛和阵挛发作仅见于DS。其他类型的癫痫发作在GTCS和DS的非典型失神发作中普遍存在，在PCDH19相关癫痫中发现局灶性运动和运动减退发作。有情感症状的癫痫发作已被证实是PCDH19相关癫痫的典型特征。两组癫痫持续状态发生率相同。仅在DS中检测到光敏反应。在智力障碍和行为障碍的存在方面没有发现差异。我们能够找到一些独特的特征，这些特征可以解决对DS或PCDH19相关性癫痫的诊断，从最初的表现开始。这些考虑建议明确地将PCDH19基因作为适当癫痫表型的原因。(C)2016爱思唯尔B.V.保留所有权利。
Aim of this study is to compare PCDH19-related epilepsy and Dravet Syndrome (DS) in order to find out differences between these two infantile epilepsies with fever sensitivity.We retrospectively reviewed the medical records of 15 patients with PCDH19-related epilepsy and 19 with DS. Comparisons were performed with Fisher's exact test or Student's t-test.Females prevailed in PCDH19-related epilepsy. Epilepsy onset was earlier in DS (5.0+2.1 vs 11.2 + 7.0 months; p < 0.05). The second seizure/cluster occurred after a longer latency in PCDH19-related epilepsy rather than in DS (10.1 +/- 13.6 vs 2.2 +/- 2.1 months; p < 0.05). Seizures were mainly single and prolonged seizures in DS, and brief and clustered in PCDH19-related epilepsy. Myoclonic and clonic seizures have been found only in DS. Other types of seizures were found in both epilepsies with a prevalence of GTCS and atypical absences in DS, and focal motor and hypomotor seizures in PCDH19-related epilepsy. Seizures with affective symptoms have been confirmed to be typical of PCDH19-related epilepsy. Status Epilepticus equally occurred in both groups. Photosensitivity was detected only in DS. No differences were found about the presence of intellectual disabilities and behavioral disturbances.We were able to find out some distinctive features, which could address the diagnosis towards DS or PCDH19-related epilepsy, since first manifestation. These considerations suggest to definitively considering PCDH19 gene as cause of a proper epileptic phenotype. (C) 2016 Elsevier B.V. All rights reserved.