Benign familial infantile seizures:: Further delineation of the syndrome
Benign familial infantile seizures:: Further delineation of the syndrome
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DOI：
10.1177/088307380201700909
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发表时间：
2002-09-01
影响因子：
1.9
通讯作者：
Fejerman, N
中科院分区：
文献类型：
--
作者：
Caraballo, RH;Cersósimo, RO;Fejerman, N
良性家族性婴儿癫痫是一种常染色体显性癫痫疾病，以惊厥为特征，发病时间为3 ~ 12个月，预后良好。良性家族性婴儿癫痫发作与染色体19q有关，而婴儿惊厥和舞蹈病综合征（其中良性家族性婴儿癫痫发作与阵发性舞蹈病有关）与染色体16p12-q12有关。来自不同种族背景的许多其他家庭也有类似的综合征，这些综合征与16号染色体婴儿惊厥和舞蹈病综合征区域有关。此外，在一个只有阵发性运动性运动障碍的大谱系中，该综合征也与相同的基因组区域有关。纯良性家族性婴儿癫痫的家族也可能与16号染色体有关。在这项研究中，我们提出了一系列的19个家庭和24个健康的婴儿良性家族性婴儿癫痫发作。其中两个家庭包括患有良性家族性婴儿癫痫发作和阵发性舞蹈病的成员。我们纳入了在2个月至2岁之间开始出现单纯性部分发作、复杂部分发作或无明确病因的明显全身性发作的神经系统检查正常的患者。神经学研究正常，但在所有患者中，父亲或母亲都有类似的癫痫发作史和发病年龄。1990年2月至2001年2月在我院对24例患者（14名女孩和10名男孩）进行了评估。评估发病年龄、性别、癫痫和/或阵发性运动障碍家族史、神经学检查、符号学、分布、发作频率和持续时间。同时进行脑电图和神经放射学检查。癫痫发作开始于3 - 22个月，中位年龄为5(1)/(2)个月。仅明显全身性发作9例（37.5%），仅部分性发作5例（20.8%），部分性和明显全身性发作兼有10例（41.6%）。癫痫发作总是短暂的，发生在清醒状态（100%），12例（50%）患者主要集中出现。23例（95.8%）间期脑电图正常。16例患者（66.6%）有除父母外的其他家庭成员有惊厥史。22名患者在30个月后不再癫痫发作。同一家庭的两兄弟分别在15岁和17岁时，在清醒时因压力而引发了短暂的身体阵发性舞蹈病。其中一人仅患有阵发性舞蹈病，另一人伴有良性家族性婴儿癫痫发作。一位父亲在18岁时醒来时有短暂的自发性阵发性舞蹈病发作。所有患者抗癫痫药物反应良好，神经系统检查、脑电图和神经影像学检查均正常。良性家族性婴儿癫痫是一种常染色体显性遗传的遗传性癫痫综合征。它可能与阵发性舞蹈病（婴儿惊厥和舞蹈病综合征）有关，这与16号染色体婴儿惊厥和舞蹈病综合征区域有关。患有婴儿惊厥和舞蹈病综合征的家庭患者可能表现为良性家族性婴儿癫痫发作或阵发性舞蹈病或两者兼而有之。纯良性家族性婴儿癫痫发作的家庭可能也与婴儿惊厥和舞蹈病有关。我们不能排除最年轻的患者在以后的生活中可能发展为舞蹈病或其他运动障碍的可能性。
Benign familial infantile seizures are an autosomal dominant epilepsy disorder that is characterized by convulsions, with onset at age 3 to 12 months and a favorable outcome. Benign familial infantile seizures have been linked to chromosome 19q, whereas infantile convulsions and choreoathetosis syndrome, in which benign familial infantile seizure is associated with paroxysmal choreoathetosis, has been linked to chromosome 16p12-q12. Many additional families from diverse ethnic backgrounds have similar syndromes that have been linked to the chromosome 16 infantile convulsions and choreoathetosis syndrome region. Moreover, in one large pedigree with paroxysmal kinesiogenic dyskinesias only, the syndrome has also been linked to the same genomic area. Families with pure benign familial infantile seizures may be linked to chromosome 16 as well. In this study, we present a series of 19 families and 24 other-wise healthy infants with benign familial infantile seizures. Two of these families include members affected with benign familial infantile seizures and paroxysmal choreoathetosis. We included patients with normal neurologic examinations, who started having simple partial seizures, complex partial seizures, or apparently generalized seizures without recognized etiology between 2 months and 2 years of age. Neurologic studies were normal, but in all patients, there was a history of similar seizures and age at onset in either the father or the mother. Twenty-four patients (14 girls and 10 boys) were evaluated at our hospital between February 1990 and February 2001. Age at onset, sex, family history of epilepsy and/or paroxysmal dyskinesias, neurologic examination, semiology, distribution, and frequency and duration of seizures were evaluated. Electroencephalographic (EEG) and neuroradiologic studies were also performed. Seizures began between 3 and 22 months of life, with a median age of 5(1)/(2) months. Nine patients (37.5%) had only apparently generalized seizures, 5 patients (20.8%) had only partial seizures, and 10 patients had both partial and apparently generalized seizures (41.6%). Seizures were invariably brief, occurred during the waking state (100%), and presented mainly in clusters in 12 patients (50%). Interictal EEG was normal in 23 patients (95.8%). Sixteen patients (66.6%) had a confirmed history of convulsions in family members other than parents. Twenty-two patients became seizure free after 30 months of life. Two brothers in the same family had brief paroxysmal episodes of choreoathetosis in the hemibody triggered by stress while awake at 15 and 17 years old, respectively. One of them had paroxysmal choreoathetosis only, and the other was associated with benign familial infantile seizures. One father had brief spontaneous episodes of paroxysmal choreoathetosis when awake at age 18 years. All of them had a good response to antiepilepsy drugs, and neurologic examination and EEG and neuroradiologic studies were normal. Benign familial infantile seizure is a genetic epilepsy syndrome with autosomal dominant inheritance. It may be associated with paroxysmal choreoathetosis (infantile convulsions and choreoathetosis syndrome), which has been linked to the chromosome 16 infantile convulsions and choreoathetosis syndrome region. Patients in families with infantile convulsions and choreoathetosis syndrome could display either benign familial infantile seizures or paroxysmal choreoathetosis or both. It is likely that the disease in families with pure benign familial infantile seizures may be linked to the infantile convulsions and choreoathetosis region as well.We cannot exclude the possibility that the youngest patients may develop choreoathetosis or other dyskinesias later in life.