Quinidine therapy and therapeutic drug monitoring in four patients with KCNT1 mutations [0.03%]
四个KCNT1基因突变患者的奎尼丁治疗及血药浓度监测案例报告
Shinsaku Yoshitomi,Yukitoshi Takahashi,Tokito Yamaguchi et al.
Shinsaku Yoshitomi et al.
Several recent studies have reported potassium sodium-activated channel subfamily T member 1 (KCNT1) mutations in epilepsy patients on quinidine therapy. The efficacy and safety of quinidine for epilepsy treatment, however, remains controve...
Neuropsychological correlates of obstructive sleep apnea severity in patients with epilepsy [0.03%]
癫痫患者的阻塞性睡眠呼吸暂停严重程度的神经心理学特征
Véronique Latreille,Kim C Willment,Rani A Sarkis et al.
Véronique Latreille et al.
Obstructive sleep apnea affects up to 30% of patients with epilepsy. As obstructive sleep apnea represents a clinical risk factor for cognitive deficits, its occurrence in epilepsy patients may exacerbate cognitive deficits associated with ...
Charles Ákos Szabó,Lola C Morgan,Suzanne Sonnenberg et al.
Charles Ákos Szabó et al.
Since lacosamide was approved as an adjuvant agent for the treatment of medically refractory focal epilepsy over ten years ago, it is becoming more widely used for the treatment of idiopathic (genetic) generalized epilepsies. Several studie...
A comprehensive clinico-pathological and genetic evaluation of bottom-of-sulcus focal cortical dysplasia in patients with difficult-to-localize focal epilepsy [0.03%]
难定位局灶性癫痫患者底池型皮质发育不良的临床病理和遗传学特征分析
Zhong Ying,Irene Wang,Ingmar Blümcke et al.
Zhong Ying et al.
We comprehensively studied the clinical presentation, stereo-EEG and MRI findings, histopathological diagnosis, and brain somatic mutations in a retrospective series of drug-resistant patients with difficult-to-localize epilepsy due to foca...
A novel mutation in KCNQ3-related benign familial neonatal epilepsy: electroclinical features and neurodevelopmental outcome [0.03%]
KCNQ3相关良性家族性新生儿癫痫的新突变：电临床特征和神经发育结局
Ettore Piro,Rosaria Nardello,Elena Gennaro et al.
Ettore Piro et al.
Benign familial neonatal epilepsy (BFNE) is caused, in about 5% of families, by mutations in the KCNQ3 gene encoding voltage-gated potassium channel subunits. Usually, newborns with BFNE show a normal neurological outcome, but recently, ref...
Functional brain connectivity in electrical status epilepticus in sleep [0.03%]
睡眠中持续性电癫痫发作的功能连接网络改变
Steven H Mott,Richard P Morse,Scott A Burroughs et al.
Steven H Mott et al.
Electrical status epilepticus in sleep (ESES) is an age-related, self-limited epileptic encephalopathy. The syndrome is characterized by cognitive and behavioral abnormalities and a specific EEG pattern of continuous spikes and waves during...
DEPDC5 mutation and familial focal epilepsy with variable foci: genotype and phenotype of a family [0.03%]
DEPDC5基因突变与家族性局灶性癫痫伴多发痫灶的致痫区分布及基因型和表型分析
Marina Aberastury,Romina Fernández,Marta Córdoba et al.
Marina Aberastury et al.
Familial focal epilepsy with variable foci is a relatively rare autosomal disease with an unclear incidence, which is characterized by focal seizures arising from different cortical regions in different family members. We describe three mem...
Roberto H Caraballo,Pedro Cachia,Gabriela Reyes Valenzuela et al.
Roberto H Caraballo et al.
A female patient with electroclinical and neuroradiological features compatible with Rasmussen syndrome developed a particular clinical and EEG pattern. As the seizures were refractory to valproate at 750 mg/kg/day, oxcarbazepine (OXC) at 3...
EEG of asymptomatic first-degree relatives of patients with juvenile myoclonic, childhood absence and rolandic epilepsy: a systematic review and meta-analysis [0.03%]
青少年肌阵挛、儿童失神和罗兰德尔癫痫患者无症状一级亲属的 EEG 的系统评价和 Meta 分析
Mariam Tashkandi,Duaa Baarma,Andrea C Tricco et al.
Mariam Tashkandi et al.
Rolandic (RE), childhood absence (CAE) and juvenile myoclonic (JME) epilepsy encompass centrotemporal sharp waves, 3-Hz spike waves and >3-Hz spike or polyspike waves, respectively. Evidence abounds for genetic roles in all three syndromes,...
Caspar Stephani,Walter Paulus,Niels K Focke
Caspar Stephani
Epileptic visual auras are elementary to complex and sometimes occur as colourful visual phenomena located close to or within the central part of the contralateral hemi-field. They typically last from seconds to a few minutes, which discrim...