Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies [0.03%]
PRRT2复合杂合性变异：遗传性癫痫表型的扩展现象
Christelle Moufawad El Achkar,Beth Rosen Sheidley,Declan O&#x;Rourke et al.
Christelle Moufawad El Achkar et al.
PRRT2 pathogenic variants have been described in benign familial infantile epilepsy, episodic ataxia, paroxysmal kinesigenic dyskinesia, and hemiplegic migraines. We describe a patient with compound heterozygous variants, infantile epilepsy...
Familial association of genetic generalised epilepsy with limb-girdle muscular dystrophy through a mutation in CAPN3 [0.03%]
CAPN3基因突变导致的遗传性全面性癫痫与肢带型肌营养不良的家族联系
Alejandro Viloria-Alebesque,Elena Bellosta-Diago,Sonia Santos-Lasaosa et al.
Alejandro Viloria-Alebesque et al.
•We present a family that includes members with phenotypes of generalized epilepsy and limb-girdle muscular dystrophy.•Subjects with heterozygous mutation developed epilepsy; a subject with homozygous mutation developed limb-girdle dystro...
Asymptomatic carotid acute dissection following focal status epilepticus [0.03%]
局灶性癫痫持续状态后无症状的颈内动脉夹层
Fedele Dono,Francesca Anzellotti,Mirella Russo et al.
Fedele Dono et al.
•CAD is one of the most important predisposing factors of cerebral ischaemia in young adults.•Focal motor seizures with the involvement of the neck may represent a risk condition of developing CAD•A heightened awareness for CAD should be...
Ictogenesis during sEEG evaluation after acute intracranial hemorrhage [0.03%]
急性颅内出血后进行皮层脑电图评估期间的ictogenesis生成
Alexandra T Issa Roach,Diana Pizarro,Hrishikesh D Deshpande et al.
Alexandra T Issa Roach et al.
We present a unique case of a patient with drug-resistant focal epilepsy undergoing stereoelectroencephalography (sEEG) who developed an acute posttraumatic intracranial hemorrhage during monitoring, first detected by changes on sEEG. Our c...
Surgically treated intracranial supratentorial calcifying pseudoneoplasms of the neuraxis (CAPNON) with drug-resistant left temporal lobe epilepsy: A case report and review of the literature [0.03%]
药物耐受性左颞叶癫痫伴桥小脑角上方神经轴钙化假肿瘤的外科治疗一例及文献复习
Yuta Tanoue,Takehiro Uda,Kosuke Nakajo et al.
Yuta Tanoue et al.
Calcifying pseudoneoplasms of the neuraxis (CAPNON) are rare pathological lesions that can present anywhere in the central nervous system. Symptoms vary depending on the location, though they often include seizures, especially in intracrani...
Non-convulsive status epilepticus associated with neuronal intranuclear inclusion disease: A case report and literature review [0.03%]
与神经细胞内包涵体病相关的非惊厥性持续状态一例及文献复习
Kazumasa Shindo,Mai Tsuchiya,Takanori Hata et al.
Kazumasa Shindo et al.
We report a case of neuronal intranuclear inclusion disease (NIID) confirmed by detection of intranuclear inclusions in a skin biopsy specimen. Brain magnetic resonance imaging showed mild cerebral atrophy and linear hyperintensities at the...
Long term seizure freedom on perampanel in highly drug-resistant epilepsy caused by bilateral periventricular nodular heterotopia: A case report [0.03%]
佩瑞美estone治疗双侧脑室周围异位结节所致药物难治性癫痫的长期无发作病例报告
Makoto Kiyose,Marlies Wagner,Annika Männer et al.
Makoto Kiyose et al.
•NMDA-receptor subunit expression of NR2A and NR2B is downregulated in heterotopias.•Glutamatergic transmission in the hyperexcitability of nodular heterotopias is implicated.•Mechanisms in PVNH to establish etiology specific therapies a...
Hemi-ESES associated with agenesis of the corpus callosum and normal cognition [0.03%]
伴胼胝体发育不全和正常智力的半边额叶癫痫发作综合征(ESES)
Mahmoud Mohammadi,Safoura Kowkabi,Ali A Asadi-Pooya et al.
Mahmoud Mohammadi et al.
•Corpus callosum plays the important role in bilateral synchronous expression of focal discharges of ESES.•Sparing dominant hemisphere form continuous spike and slow waves during sleep accounts for normal cognitive scores.•Early detectio...
Perampanel: A therapeutic alternative in refractory status epilepticus associated with MELAS syndrome [0.03%]
佩乐能治疗线粒体脑肌病伴乳酸血症和卒中样发作综合征难治性状态癫痫持续状态疗效观察
Estevo Santamarina,Alicia Alpuente,Olga Maisterra et al.
Estevo Santamarina et al.
To our knowledge, there are no reports of status epilepticus (SE) associated with mitochondrial diseases and treated with perampanel (PER). We present three cases of patients with refractory SE associated with MELAS syndrome who responded f...
Continuous ictal discharges with high frequency oscillations confined to the non-sclerotic hippocampus in an epileptic patient with radiation-induced cavernoma in the lateral temporal lobe [0.03%]
放射致侧颞叶海绵状血管瘤性癫痫持续期高振荡发放定位在非硬化海马病理生理意义的研究
Nobutaka Mukae,Takato Morioka,Michiko Torio et al.
Nobutaka Mukae et al.
Background: Intraoperative electrocorticography (iECoG) recording is recommended for treating cavernoma related epilepsy. However, "interictal" paroxysmal activities are generally recordable but are not always identical t...