Results 41 to 50 of about 713,420 (262)

The hybrid brain PET/MRI method with ¹⁸F-FDG in the diagnostics of focal cortical dysplasia in patients with focal drug-resistant epilepsy

Клиническая практика
BACKGROUND: Up to 30% of the patients with epilepsy are resistant to drug therapy. One of the leading causes of drug-resistant epilepsy in adults and children is the focal cortical dysplasia. The complete resection of the epileptogenic focus in 60–70% of
Tatiana M. Rostovtseva, Mikhail B. Dolgushin, Andrey V. Dvoryanchikov, Rostislav V. Nadelyaev, Mariya A. Karalkina, Vidzhai M. Dzhafarov, Yulia V. Rubleva, Elena A. Baranova, Olga I. Patsap, Sergey G. Burd   +9 more
doaj   +1 more source

SLC35A2 somatic variants in drug resistant epilepsy: FCD and MOGHE

Neurobiology of Disease, 2023
De novo somatic (post-zygotic) gene mutations affecting neuroglial progenitor cell types in embryonic cerebral cortex are increasingly identified in patients with drug resistant epilepsy (DRE) associated with malformations of cortical development, in ...
Soad Elziny, Peter B. Crino, Melodie Winawer   +2 more
doaj   +1 more source

Somatic mutations are abundant in focal cortical dysplasia

, 2021
FAPESP - FUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULOMalformations of cortical development (MCD), including focal cortical dysplasia (FCD), can cause epilepsy and are associated with refractory seizures. FCD is characterized by alterations in the
Borges, M., Torres, F. R., Rogerio, F., Lopes-Cendes, I., Cendes, F., Almeida, V., Avansini, S. H., Carvalho, B. S.   +7 more
core   +1 more source

Focal Cortical Dysplasia with hippocampal sclerosis

Autopsy and Case Reports, 2023
Focal Cortical Dysplasia (FCD) is a group of focal developmental malformations of the cerebral cortex cytoarchitecture. FCD usually manifests as medically intractable epilepsy, especially in young children.
Devendra Jadav, Vaibhav Gupta, Sudeep Khera, Vikas Meshram   +3 more
doaj  

Complementing Engel Classification: Postoperative Scalp EEG as an Objective Indicator in SEEG‐Guided Radiofrequency Thermocoagulation—A Seizure‐Onset Pattern‐Based Stratified Analysis—

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Stereoelectroencephalography‐guided radiofrequency thermocoagulation (SEEG‐RFTC) is a minimally invasive therapy for drug‐resistant focal epilepsy. However, the relationship between specific seizure‐onset patterns (SOPs), particularly low‐voltage fast activity (LVFA), and postoperative scalp EEG normalization remains inadequately ...
Yi‐qing Yang, Rui Zhang, Haiyan Ma, Lu Yang, Xuefeng Qu, Qiqi Chen, Yan Zhang   +6 more
wiley   +1 more source

Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß, Vykuntaraju K. Gowda, Daniel Natera‐de Benito, Pinki Munot, Maria Vanegas, Alejandra Darling, Constanze Reutlinger, Laura Carrera‐Garcia, Gilbert Wunderlich, Heike Kölbel, Burkhard Stüve, David Muhmann, Lucía Monfort Belenguer, Diana‐Gabriela Barca, Viveka Santhosh Reddy C, Varunvenkat M. Srinivasan, Cristina Molina Anguita, Heinz Jungbluth, Hormos Salimi Dafsari, Thomas Rossor, Johann Böhm, Ulrike Schara‐Schmidt, Andreas Roos   +22 more
wiley   +1 more source

ZBTB18 Dysfunction Promotes Neuropathic Pain via CHD4‐based Epigenetic Disinhibition of CLIC1 Channels in Sensory Neurons

Advanced Science, EarlyView.
In this study, we identify a novel functional role of ZBTB18 in regulating trigeminal‐mediated neuropathic pain. Nerve injury reduces ZBTB18 in trigeminal ganglion neurons, impairing CHD4/NuRD recruitment and de‐repressing Clic1. Elevated CLIC1 enhances chloride channel activity and neuronal hyperexcitability, thereby driving pain.
Shoupeng Wang, Zitong Huang, Yu Tao, Yunmei Zhang, Yufang Sun, Dongsheng Jiang, Weiwei Lu, Fuhai Ji, Gang Chen, Min Xu, Yuan Zhang, Jin Tao   +11 more
wiley   +1 more source

TH/TRs–COL11A2 Axis Mediates Loss of a Differentiated Astrocyte State in Hypogyrified Brains

Advanced Science, EarlyView.
Using a gyrencephalic congenital hypothyroidism pig model, this study reveals cerebral atrophy and cortical hypogyrification. Single‐cell sequencing identifies astrocytes as major TH‐responsive cells, with the COL11A2‐enriched Astro‐2 state nearly absent.
Ying Zhang, Xiao Wang, Hongyan Ma, Pengcheng Lyu, Shuangjie Tian, Ruojun Zong, Jiani Chen, Gang Ren, Yongjiang Yang, Zichen Yang, Guosong Qin, Naishi Li, Yanfang Wang, Jianwei Jiao, Jianguo Zhao   +14 more
wiley   +1 more source

Ultra-High-Field Targeted Imaging of Focal Cortical Dysplasia: The Intracortical Black Line Sign in Type IIb

, 2019
Conventional MR imaging has limitations in detecting focal cortical dysplasia. We assessed the added value of 7T in patients with histologically proved focal cortical dysplasia to highlight correlations between neuropathology and ultra-high-field ...
Garbelli, R, Biagi, L, Guerrini, R, Cosottini, M, Spreafico, R, Tassi L., Spreafico R., Costagli M., Giordano F., Bartolini, E, Costagli, M, Buccoliero, A, Buccoliero A., Barba, C, Giordano, F, Bartolini E., Guerrini R., Biagi L., Tassi, L, Cosottini M., Barba C., Garbelli R., Bartolini, E., Giordano, F., Barba, C., Buccoliero, A., Guerrini, R.   +26 more
core   +1 more source

TNAP and PHOSPHO1 Function Synergistically to Afford Critical Control Over the Mineralization of the Postnatal Murine Skeleton

Advanced Science, EarlyView.
Biomineralization underpins skeletal development, yet its molecular control remains incompletely understood. Using a novel murine knockout model, this study reveals the essential and complementary roles of PHOSPHO1 and TNAP in postnatal skeletal development.
Lucie E. Bourne, Aikta Sharma, Scott Dillon, Jacob Keen, Soher N. Jayash, Natalie Crump, Lucinda A.E. Evans, Maya Karmali, Worachet Promruk, Claire E. Clarkin, Sonoko Narisawa, Louise Stephen, Brian L. Foster, José Luis Millán, Colin Farquharson, Katherine A. Staines   +15 more
wiley   +1 more source