Results 71 to 80 of about 33,337 (262)

Multimodal single-cell analyses reveal molecular markers of neuronal senescence in human drug-resistant epilepsy

The Journal of Clinical Investigation
The histopathological neurons in the brain tissue of drug-resistant epilepsy exhibit aberrant cytoarchitecture and imbalanced synaptic circuit function.
Qianqian Ge, Jiachao Yang, Fei Huang, Xinyue Dai, Chao Chen, Jingxin Guo, Mi Wang, Mengyue Zhu, Yijie Shao, Yuxian Xia, Yu Zhou, Jieqiao Peng, Suixin Deng, Jiachen Shi, Yiqi Hu, Huiying Zhang, Yi Wang, Xiaoqun Wang, Xiao-Ming Li, Zhong Chen, Yousheng Shu, Jun-Ming Zhu, Jianmin Zhang, Ying Shen, Shumin Duan, Shengjin Xu, Li Shen, Jiadong Chen   +27 more
doaj   +1 more source

Chronic Disease Monitoring Using Advanced Compliant Materials for Bioelectronics

Advanced Electronic Materials, EarlyView.
Compliant bioelectronic systems enable continuous monitoring of chronic disease through soft, stretchable materials and tissue‐conformal designs that support stable electrophysiological, mechanical, and biochemical sensing. Integration of diverse sensing modalities with thoughtful material selection, device architectures, and advanced fabrication ...
Han Kim, Mabel Bartlett, Liyang Wang, Karl Bates, Mengdi He, Myungbo Kim, Carmel Majidi, Tzahi Cohen‐Karni   +7 more
wiley   +1 more source

Language recovery after epilepsy surgery of the Broca's area

Epilepsy and Behavior Case Reports, 2018
Epilepsy surgery is indicated in select patients with drug-resistant focal epilepsy. Seizure freedom or significant reduction of seizure burden without risking new neurological deficits is the expected goal of epilepsy surgery.
Lilit Mnatsakanyan, Sumeet Vadera, Christopher W. Ingalls, Jie Zheng, Mona Sazgar, Frank P. Hsu, Jack J. Lin   +6 more
doaj   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Study on expressions of heat shock 27⁃associated protein 1 and echinoderm microtubule⁃associated protein⁃like 5 in drug⁃resistant epilepsy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2012
Objective To observe the expressions of heat shock 27 ⁃ associated protein 1 (HSPBAP1) and echinoderm microtubule⁃associated protein⁃like 5 (EML5) in cerebrospinal fluid of drug⁃ resistant epilepsy, and to explore the value in early diagnosis of epilepsy.
Yun CHEN, Zhi⁃qin XI, Zhen⁃li GUO, Hong⁃xiang YIN, Bin FU, Rui ZHOU, Bi⁃tang DAN   +6 more
doaj  

Benzodiazepine-resistant epilepsy: unraveling molecular mechanisms and developing multimodal therapeutic strategies

Frontiers in Neurology
Epilepsy is one of the most common nervous system diseases, which is characterized by recurrent seizures caused by abnormal neuronal discharges in the brain. Drug-resistant epilepsy (DRE) brings great challenges to clinical treatment.
Yanqiu Huang, Yangfan Zhang, Yi Liang
doaj   +1 more source

Diagnosis and Surgical Treatment of Drug-Resistant Epilepsy

Brain Sciences, 2018
Despite appropriate trials of at least two antiepileptic drugs, about a third of patients with epilepsy remain drug resistant (intractable; refractory).
Chinekwu Anyanwu, Gholam K. Motamedi
doaj   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Ketogenic dietary therapy utilization in Kenya: A qualitative exploration of dietitian’s perceptions

Epilepsy & Behavior Reports
This study utilized a qualitative design to explore dietitians’ perceptions regarding Ketogenic Diet Therapy (KDT) for patients with drug-resistant epilepsy in Kenya. Dietitians from Kenya were selected and consented.
Pauline Samia, Violet Naanyu, J Helen Cross, Richard Idro, Paul Boon, Jo Wilmshurst, Stanley Luchters   +6 more
doaj   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source