癫痫发作，良性家族性新生儿 1
基因病名称(英)
Seizures, benign familial neonatal 1
别名(英)
Benign familial neonatal convulsions 1,Benign neonatal epilepsy 1,Benign neonatal epilepsy 1 and/or myokymia,Benign neonatal epilepsy 1 with myokymia,Benign neonatal epilepsy atypical severe,BFNC/myokymia syndrome,BFNC1,Convulsions benign familial neonatal 1 with myokymia,EBN1,Myokymia isolated,Myokymia with neonatal epilepsy
别名
良性家族性新生儿惊厥 1，良性新生儿癫痫 1，良性新生儿癫痫 1 和/或肌运动，良性新生儿癫痫 1 伴肌运动，良性新生儿癫痫非典型重度，BFNC/肌运动综合征，BFNC1，惊厥良性家族性新生儿 1 伴肌运动，EBN1， Myokymia 孤立，Myokymia 与新生儿癫痫
统计
reviewed:1; annotated:0
交叉引用
121200,C1852587,C2751195,C3149074,C3149075,D020385,D020936
描述(英)
A disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age and show normal psychomotor development. Some rare cases manifest an atypical severe phenotype associated with epileptic encephalopathy and psychomotor retardation. The disorder is distinguished from benign familial infantile seizures by an earlier age at onset. In some patients, neonatal convulsions are followed later in life by myokymia, a benign condition characterized by spontaneous involuntary contractions of skeletal muscles fiber groups that can be observed as vermiform movement of the overlying skin. Electromyography typically shows continuous motor unit activity with spontaneous oligo- and multiplet-discharges of high intraburst frequency (myokymic discharges). Some patients may have isolated myokymia.
描述
一种疾病，其特征是在出生后的最初几天内会出现成群的癫痫发作。大多数患者在 12 个月大时自发缓解，并表现出正常的精神运动发育。一些罕见的病例表现出与癫痫性脑病和精神运动迟缓相关的非典型严重表型。该疾病在发病年龄较早时就与良性家族性婴儿癫痫发作区分开来。在一些患者中，新生儿惊厥之后会出现肌运动，这是一种良性疾病，其特征是骨骼肌纤维群的自发不自主收缩，可以观察到覆盖皮肤的蠕虫状运动。肌电图通常显示持续的运动单位活动，伴有高突发频率的自发性寡和多重放电（肌电放电）。