Children with focal sharp waves: Clinical and genetic aspects
Children with focal sharp waves: Clinical and genetic aspects
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DOI：
10.1111/j.1528-1157.1997.tb01466.x
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发表时间：
1997-07-01
期刊：
影响因子：
5.6
通讯作者：
Neubauer, B
中科院分区：
文献类型：
--
作者：
Doose, H;BriggerHeuer, B;Neubauer, B
目的：探讨小儿脑电图良性局灶尖波的临床表现谱，以进一步了解家庭研究中临床和脑电图症状学的遗传背景。方法：所有147例患儿（134例有癫痫发作，13例无癫痫发作）均符合以下纳入标准：(a)至少1例脑电图显示良性部分性癫痫的局灶尖波特征，(b)至少1例兄弟姐妹接受脑电图调查。就癫痫发作的情况向这些家庭进行了口头或书面询问。采用标准化方案评估患者记录。结果：发作类型有：发热性惊厥（FC）、发热性全身性强直-阵挛性发作（GTCS）、单纯性和（罕见的）复杂部分性发作；以及严格意义上的罗兰式癫痫发作。新生儿癫痫发作比例过高（6%）；没有迹象表明是病变引起的。38例（26%）发生FC。与未选择的FC病例相比，复杂症状被过度代表。家庭数据显示，FC责任的遗传具有母系优势，FC先证者的患病亲属比无FC先证者的亲属更常表现为FC。32例典型罗兰发作患者的家庭（占134例癫痫发作先证的24%）没有罗兰发作聚集性，但确实表现出不同的癫痫发作类型。在整个样本中，脑电图调查显示，在2-10岁的兄弟姐妹中，有11%的人出现局灶尖波。兄弟姐妹的临床症状与尖波表现无相关性。在66%的先证者中，脑电图揭示了普遍的遗传模式。有广泛性尖峰波（sw）和/或θ波节律的兄弟姐妹比没有sw和/或θ波节律的兄弟姐妹更容易发生局灶性尖峰波。结论：局灶性尖波遗传异常的表型表达表现出相当大的变异性。临床和脑电图的结果与癫痫的多因素发病机制一致，具有“良性”局灶性癫痫状尖波。
Purpose: To investigate the spectrum of clinical manifestations in children with benign focal sharp waves in the EEG to gain further insight into the genetic background of clinical and EEG symptomatology in a family study.Methods: All 147 children (134 with seizures, 13 without) met the following inclusion criteria: (a) at least one EEG with focal sharp waves characteristic of benign partial epilepsies, and (b) at least 1 sibling investigated by EEG. The families were questioned orally or in writing regarding the occurrence of seizures. Patients' records were evaluated by a standardized scheme.Results: The following types of seizures occurred: febrile convulsions (FC), afebrile generalized tonic-clonic seizures (GTCS), simple and (rarely) complex partial seizures; and rolandic seizures in the strict sense. Neonatal seizures were overrepresented (6%); there were no indications of lesional causes. FC occurred in 38 children (26%). As compared with unselected cases of FC, complex symptoms were overrepresented. Family data suggested a maternal preponderance in the transmission of FC liability, Affected relatives of FC probands manifested FC more often than did relatives of probands without FC. Families of 32 patients with typical rolandic seizures (24% of the 134 probands with seizures) showed no aggregation of rolandic epilepsy, but did show variable seizure types. In the entire sample, EEG investigations showed focal sharp waves in 11% of siblings aged 2-10 years. No relation existed between clinical symptomatology and sharp wave findings in siblings. In 66% of probands, the EEG disclosed generalized genetic patterns. Siblings with generalized spike-waves (sw) and/or theta rhythm had focal sharp waves mon often than those without sw and/or theta rhythm.Conclusions: The phenotypic expression of the genetic anomaly underlying focal sharp waves shows considerable variability. The clinical and EEG findings are in agreement with a multifactorial pathogenesis of epilepsies with ''benign'' focal epileptiform sharp waves.