Family studies of individuals with eyelid myoclonia with absences
Family studies of individuals with eyelid myoclonia with absences
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DOI：
10.1111/j.1528-1167.2012.03692.x
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发表时间：
2012-12-01
期刊：
影响因子：
5.6
通讯作者：
Scheffer, Ingrid E.
中科院分区：
文献类型：
--
作者：
Sadleir, Lynette G.;Vears, Danya;Scheffer, Ingrid E.
目的：眼睑肌阵挛失神发作（EM）是一种罕见的失神发作类型，与多种癫痫综合征相关。EM癫痫综合征（EMA）被认为是儿童时期开始的由闭眼和光刺激引起的频繁EM发作。EMA的临床遗传学尚未得到很好的表征，尽管癫痫发作的家族史并不罕见。方法：通过转诊和研究者的临床实践确定EMA患者。使用经验证的癫痫发作问卷对所有可用的家庭成员进行癫痫发作评估。获得每个先证者和所有受影响的家庭成员的电临床数据;构建家系。分析了家庭的表型模式。关键发现：招募了18名EMA患者。18个家系中有15个家系（83%）的34名亲属有癫痫发作史。在癫痫证候方面，15个家系中有7个家系有9名亲属有热性惊厥。两个亲戚有EMA。经典的遗传性全身性癫痫（GGE）综合征出现在五个亲属：两个全身强直阵挛性癫痫发作单独，两个儿童失神癫痫（CAE），和一个青少年肌阵挛性癫痫（JME）。16名亲属发生了遗传性癫痫伴热性惊厥+（GEFS+）表型。回顾每个家庭的癫痫综合征，7个家庭的模式与GEFS+一致，而3个家庭有经典的GGE。重要性：EMA的临床遗传学表明存在复杂的遗传，具有与经典GGE和GEFS+重叠的共享遗传决定因素。EMA先证者亲属的癫痫综合征与CAE先证者家族的癫痫综合征不同，支持EMA患者具有不同于CAE的综合征的概念。这大概反映了不同的遗传成分对它们的遗传结构的贡献。
Purpose: Eyelid myoclonia with absences (EM) is an uncommon type of absence seizure associated with a variety of epilepsy syndromes. The syndrome of epilepsy with EM (EMA) has been proposed to denote the onset of frequent EM induced by eye closure and photic stimulation beginning in childhood. The clinical genetics of EMA has not been well characterized, although a family history of seizures is not infrequent. Methods: Individuals with EMA were ascertained by referral and through the investigators clinical practices. All available family members were assessed for seizures using a validated seizure questionnaire. Electroclinical data were obtained on each proband and all affected family members; pedigrees were constructed. Families were analyzed for phenotypic patterns. Key Findings: Eighteen individuals with EMA were recruited. A history of seizures was found in 34 relatives in 15 (83%) of 18 families. In terms of epilepsy syndromes, 9 relatives from 7 of 15 families had febrile seizures. Two relatives had EMA. Classical genetic generalized epilepsy (GGE) syndromes were seen in five relatives: two generalized tonicclonic seizures alone, two childhood absence epilepsy (CAE), and one juvenile myoclonic epilepsy (JME). Genetic epilepsy with febrile seizures plus (GEFS+) phenotypes occurred in 16 relatives. On review of the epilepsy syndromes within each family, seven families had a pattern consistent with GEFS+, whereas three families had classical GGE. Significance: The clinical genetics of EMA is suggestive of complex inheritance with shared genetic determinants overlapping with both classical GGE and GEFS+. The epilepsy syndromes in relatives of probands with EMA differ from those found in families of probands with CAE, supporting the concept that patients with EMA have a syndrome that is distinct from CAE. This presumably reflects different genetic components contributing to their genetic architecture.