Unique Severe HyperEkplexia-Like Apneic Events (SHELAE) Improved by High-Dose Piracetam [0.03%]
高剂量匹拉西坦治疗独特的严重类似屏气发作事件(SHELAE)
Janardhan Krishnappa,Adeline Ngoh,Yeo Tong Hong et al.
Janardhan Krishnappa et al.
Breath-holding spells are common non-epileptic events with onset between 6 months and 18 months of age that are usually triggered by minor painful events or strong emotions. Symptomatic treatments for breath-holding spells include iron supp...
Vitamins are Indeed Vital Amines: A Discussion of 3 Deficiencies With Neurologic Manifestations [0.03%]
维生素确实是氨基 vitally重要的：对三种具有神经表现形式的缺乏症的讨论
Bedirhan Tarhan,Sydur Rahman,Nancy Joseph et al.
Bedirhan Tarhan et al.
Optimal functioning of the human nervous system depends on a constant supply of nutrients, vitamins, and minerals. In the developed world, nutritional deficiencies are relatively rare and infrequently present with neurologic manifestations....
Long-term Efficacy of Perampanel in a Child with Dravet Syndrome [0.03%]
患有Dravet综合征的儿童长期使用Perampanel的效果
Eulàlia Turón-Viñas,Asunción Díaz-Gómez,Elisabet Coca et al.
Eulàlia Turón-Viñas et al.
Dravet syndrome is a genetic developmental and epileptic encephalopathy (DEE) mostly due to mutations in SCN1A gene. Perampanel is a selective and non-competitive alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor anta...
Extensive Longitudinal Transverse Myelitis Associated With CSF Epstein-Barr Virus Infection: A Case Report [0.03%]
与脑脊液EB病毒感染相关的广泛纵向横贯性脊髓炎：病例报告
Pratibha Singhi,Jai Prakash Sharma,Rakchhya Gautam et al.
Pratibha Singhi et al.
Background. Acute transverse myelitis (ATM) in children can be secondary to central nervous system infections. Several reports have associated ATM with Epstein-Barr virus (EBV) infection. Case presentation. We report a previously healthy 10...
Alexandra C Kirsch,Dana M McCall,Hadley Lange et al.
Alexandra C Kirsch et al.
Limited information is known about neuropsychological outcomes in Alexander disease, a rare leukodystrophy. Two pediatric cases are summarized. Case 1 (evaluations at 6, 7, 9, and 12 years of age) represents Type I Alexander disease with as...
Lipomatous Infiltration in Tuberous Sclerosis Complex - A Case Series and Literature Review [0.03%]
结节性硬化症中脂肪浸润-病例系列与文献回顾
Mohammed Ilyas,Julio Quezada,Erin K Opfer
Mohammed Ilyas
Diffuse Lipomatosis is a dermatological lesion consisting of a poorly circumscribed, infiltrative overgrowth of mature adipose tissue that usually affects the trunk and the extremities. The lesions in the Tuberous Sclerosis Complex (TSC) ar...
Novel HSD17B4 Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature Review [0.03%]
新型HSD17B4变异物引起儿童进行性脑白质病：病例报告及文献回顾
Akiyo Yamamoto,Shinobu Fukumura,Yumi Habata et al.
Akiyo Yamamoto et al.
D-bifunctional protein (DBP) deficiency is a peroxisomal disorder with a high degree of phenotypic heterogeneity. Some patients with DBP deficiency develop progressive leukodystrophy in childhood. We report a 6-year-old boy with moderate he...
Remote Assessment of Pediatric Patients with Daytime Sleepiness and Healthy Controls: A Pilot Study of Feasibility and Reliability [0.03%]
儿童日间嗜睡远程评估及健康对照的初步研究：可行性与可靠性研究
Jennifer Worhach,Madeline Boduch,Bo Zhang et al.
Jennifer Worhach et al.
We assessed the reliability of cognitive testing for children and adolescents ages 8 to 19 years of age with narcolepsy or subjective daytime sleepiness compared to healthy controls. Forty-six participants took part in the study (n = 18 nar...
Ketogenic Diet in Glut 1 Deficiency Through the Life Cycle: Pregnancy to Neonate to Preschooler [0.03%]
生命全程中的Glut1缺乏症的生酮饮食：从孕妇到新生儿到学龄前儿童
Jennifer Kramer,Lisa Smith
Jennifer Kramer
A 19-year-old woman with glucose transporter type 1 deficiency syndrome (Glut1DS) treated with ketogenic diet therapy (KDT) became pregnant. Her pregnancy included close monitoring of her diet as well as the fetus. Shortly after delivery, a...
Validating Coding for the Identification of Pediatric Treatment Resistant Epilepsy Patients [0.03%]
验证编码在识别儿童难治性癫痫患者中的应用
Daniel A Freedman,Zachary Grinspan,Peter Glynn et al.
Daniel A Freedman et al.
The International Classification of Diseases (ICD) system includes sub codes to indicate that an individual with epilepsy is treatment resistant. These codes would be a valuable tool to identify individuals for quality improvement and popul...