Domenico Serino,Chiara Davico,Nicola Specchio et al.
Domenico Serino et al.
Berardinelli-Seip syndrome, or congenital generalized lipodystrophy type 2 (CGL2), is characterized by a lack of subcutaneous adipose tissue and precocious metabolic syndrome with insulin resistance, resulting in diabetes, dyslipidaemia, he...
A Rasmussen encephalitis, autoimmune encephalitis, and mitochondrial disease mimicker: expanding the DNM1L-associated intractable epilepsy and encephalopathy phenotype [0.03%]
RASPS样脑炎：DNM1L相关难治性癫痫和脑病表型的扩展
Danielle A Nolan,Baibing Chen,Anne Marie Michon et al.
Danielle A Nolan et al.
Dynamin-1-like protein (DNM1L) gene variants have been linked to childhood refractory epilepsy, developmental delay, encephalopathy, microcephaly, and progressive diffuse cerebral atrophy. However, only a few cases have been reported in the...
Under-reporting of nocturnal seizures using video-based home monitoring: a case study on the evaluation of the effect of vagal nerve stimulation [0.03%]
基于视频的家庭监测夜间癫痫发作记录不足的病例分析：评估迷走神经刺激疗效的影响
Stefano Peciola,Sari-Leena Himanen,Andrew Knight et al.
Stefano Peciola et al.
A challenge in treating epilepsy is the accurate documentation of seizure frequency, which is needed in order to assess the benefits of ongoing treatment. We present a 17-year-old girl who underwent video-based monitoring in order to establ...
The electroclinical features of idiopathic generalized epilepsy patients presenting with fixation-off sensitivity [0.03%]
表现为固定脱敏的特发性全面性癫痫患者的电生理特征
Xiaoli Wang,Ying Zhang,Wenjuan Zhang et al.
Xiaoli Wang et al.
To determine the electroclinical features of fixation-off sensitivity (FOS) in patients with idiopathic generalized epilepsy (IGE). We searched the EEG database using the terms "fixation-off sensitivity" and "idiopathic generalized epilepsy...
De novo absence status epilepticus in three paediatric patients: a new idiopathic epilepsy syndrome? [0.03%]
三种儿科患者的从头缺损状态癫痫发作：一个新的特发性癫痫综合征？
Roberto H Caraballo,Santiago Chacón,Lorena Fasulo et al.
Roberto H Caraballo et al.
Absence status epilepticus (ASE) is a prolonged generalized absence seizure that usually lasts for hours and can even last for days. The main symptom is the altered content of consciousness while the patient may be alert and partly responsi...
Hemiconvulsion-Hemiplegia-Epilepsy in a girl with cobalamin C deficiency [0.03%]
维生素B12C缺乏女孩的半身抽搐-偏瘫-癫痫综合征
Kenneth A Myers,Roy Wr Dudley,Myriam Srour
Kenneth A Myers
Hemiconvulsion-Hemiplegia-Epilepsy initially involves an infantile presentation of febrile focal motor status epilepticus, with subsequent hemiplegia of the initially affected side. Months to years later, affected children go on to develop ...
KCNQ2 mutation in an infant with encephalopathy of infancy with migrating focal seizures [0.03%]
KCNQ2突变所致婴儿期癫痫性脑病的临床和基因型分析
Alexander Freibauer,Kevin Jones
Alexander Freibauer
A male neonate presented with seizures at 18 hours of life, characterized by tonic posturing with eye deviation to the right, apnoea, bradycardia, and oxygen desaturation. Initial structural, metabolic, and infectious work-up was unremarkab...
Nigel Ck Tan,Samuel F Berkovic,Daniel H Lowenstein
Nigel Ck Tan
Intractable apnoeic seizures in a child with a deletion typically associated with Williams syndrome [0.03%]
威廉姆斯综合征患儿衍生基因缺失所致难治性呼吸暂停发作
Saber Jan,Ayako Ochi,Kota Kagawa et al.
Saber Jan et al.
Williams-Beuren syndrome is rarely associated with epilepsy. One previously reported case showed an association with apnoeic seizures while a few other cases showed an association with infantile epileptic spasms and generalized and focal se...