Results 131 to 140 of about 15,063 (315)

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach [PDF]

, 2015
The Aristaless-related homeobox (ARX) gene is implicated in intellectual disability with the most frequent pathogenic mutations leading to expansions of the first two polyalanine tracts. Here, we describe analysis of the ARX gene outlining the approaches
Aguiar, L., Amado, M., Calado, A., Catford, R., Dias, P., Fortuna, A., Friend, K, Howell, K., Jorge, P., Leventer, R., Marques, I., Mattiske, T., Mota, M., Pinheiro, C., Ryan, M., Sachdev, R., Santos, R., Shoubridge, C., Soares, C., Soares, G., Sousa, A., Sá, J.   +21 more
core   +3 more sources

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

Epilepsia Open, EarlyView.
Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira, Antonia Schonwald, Chian‐Ru Chern, Kamya Shah, Jana Velíšková, Libor Velíšek   +5 more
wiley   +1 more source

A pilot study on the programming protocol of vagus nerve stimulation in children with drug‐resistant epilepsy: High pulse amplitude or high duty cycle

Epilepsia Open
Objective To compare the efficacy and safety of vagus nerve stimulation using different modes in patients with drug‐resistant epilepsy (DRE). Methods Children with DRE who underwent vagus nerve stimulator implantation between March 2019 and December 2022
Yuying Pan, Han Xie, Jiayi Ma, Taoyun Ji, Qingzhu Liu, Lixin Cai, Yuwu Jiang, Kai Zhang, Jianguo Zhang, Ye Wu   +9 more
doaj   +1 more source

Insufficient Efficacy of Corpus Callosotomy for Epileptic Spasms With Biphasic Muscular Contractions [PDF]

, 2020
Sotaro Kanai, Tohru Okanishi, Mitsuyo Nishimura, Masayoshi Oguri, Hideo Enoki, Yoshihiro Maegaki, Ayataka Fujimoto   +6 more
openalex   +1 more source

The multiple hit model of infantile and epileptic spasms: The 2025 update

Epilepsia Open, EarlyView.
Abstract Objective Infantile and epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy manifesting with epileptic spasms and poor neurodevelopmental outcomes. There is an urgent need for the development of more effective and tolerated therapies.
Aristea S. Galanopoulou, Wenzhu B. Mowrey, Wei Liu, Anna Maria Katsarou, Qianyun Li, Oleksii Shandra, Solomon L. Moshé   +6 more
wiley   +1 more source

Application of an EEG-based deep learning model to discriminate children with epileptic spasms from normal controls [PDF]

, 2023
Mingjian Lu, Yipeng Zhang, Atsuro Diada, Shingo Oana, Rajsekar R. Rajaraman, Hiroki Nariai, Vwani Roychowdhury, Shaun A. Hussain   +7 more
openalex   +1 more source

Plagiarism penalties [PDF]

, 2015
Research in all areas of sciences and humanities has led to the creation of a highly competitive environment which necessitates reporting of ideas, and discoveries at rapid pace.
Siddiqui, Anwar, Wasay, Mohammad
core   +1 more source

A multi‐feature method for real‐time seizure detection in pediatric intensive care unit

Epilepsia Open, EarlyView.
Abstract Purpose Continuous electroencephalogram (cEEG) monitoring is an important technique used in detecting electroclinical seizures in the pediatric intensive care unit (PICU). This study developed an artificial intelligence method for the real‐time automatic detection of seizures in the PICU.
Tian Sang, Jiong Deng, Tong Zhao, Qi Zhang, Qiao Guan, Yanqin Lei, Yuxiang Yan, Bo Hong, Ningning Wei, Yuwu Jiang, Ying Wang   +10 more
wiley   +1 more source

Expanding the Phenotype of CYFIP2‐Related Developmental Epileptic Encephalopathy: Case Report and Literature Review

Annals of the Child Neurology Society
Background Pathogenic CYFIP2 variants cause developmental and epileptic encephalopathy (DEE), characterized by early‐onset intractable epilepsy and developmental delay. The disease course has not been delineated.
Michaela Squire, Jenna K. Lea, Zheng (Jane) Fan, Senyene E. Hunter   +3 more
doaj   +1 more source

Neurodevelopmental features in KCNQ2 developmental and epileptic encephalopathy may have limited associations with KV7.2 dysfunction

Epilepsia Open, EarlyView.
Abstract Objective Variants in KCNQ2 encoding the voltage‐gated potassium channel KV7.2 are associated with developmental and epileptic encephalopathy (DEE) of varying severity. This study examined the relationship of KCNQ2 variant dysfunction with the neurodevelopmental phenotype of individuals with KCNQ2‐DEE. Methods A parent‐reported survey gathered
Jessa S. Bidwell, Carlos G. Vanoye, Reshma R. Desai, Anne T. Berg, Alfred L. George Jr   +4 more
wiley   +1 more source