Results 61 to 70 of about 50,276 (321)

Occult Cortical Dysplasia and Focal Status

Pediatric Neurology Briefs, 1993
Four patients, ages 4, 6, 13, and 21 years, with life-threatening focal motor status epilepticus, normal pre-operative MRI, and focal cortical dysplasia defined only in the surgical specimens obtained by corticectomies, are reported from the Montreal ...
J Gordon Millichap
doaj   +1 more source

Combining magnetic resonance fingerprinting with voxel‐based morphometric analysis to reduce false positives for focal cortical dysplasia detection

Epilepsia
We aim to improve focal cortical dysplasia (FCD) detection by combining high‐resolution, three‐dimensional (3D) magnetic resonance fingerprinting (MRF) with voxel‐based morphometric magnetic resonance imaging (MRI) analysis.
Zheng Ding, Siyuan Hu, T. Su, Joo Yul Choi, Spencer Morris, Xiaofeng Wang, Ken Sakaie, Hiroatsu Murakami, H. Huppertz, Ingmar Blümcke, Stephen Jones, Imad Najm, Dan Ma, Z. Wang   +13 more
semanticscholar   +1 more source

Early lipofuscin accumulation in Frontal Lobe Epilepsy [PDF]

, 2016
OBJECTIVE: This study reports on a novel brain pathology in young patients with frontal lobe epilepsy (FLE) that is distinct from focal cortical dysplasia (FCD).
Asinof, Baulac, Baulac, Baybis, Behrends, Benavides, Blümcke, Boellaard, Boillot, Boumil, Brodin, Brunk, D'Gama, Duncan, EuroEPINOMICS-RES Consortium, Guerrini, Heywood, Ichimura, Iyer, Jamuar, Kim, Komatsu, Krsek, Kuzniecky, Leventer, Lim, Lin, Liu, Ljungberg, Marin-Valencia, Marino, Meng, Miyahara, Nakashima, Nowell, Ottis, Ravikumar, Rong, Royle, Scerri, Scheffer, Sulzer, Taylor, Traub, Yao, Yasin, Yu, Zhou   +47 more
core   +2 more sources

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  

Surgical Outcome in Focal Cortical Dysplasia

Pediatric Neurology Briefs, 2009
The predictors of surgical outcome and relevance of pathological severity were determined in 166 consecutive patients with intractable epilepsy and focal cortical dysplasias treated surgically at Konkuk University Medical Center, and National University ...
J Gordon Millichap
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

Rasmussen's encephalitis presenting as focal cortical dysplasia

Epilepsy and Behavior Case Reports, 2014
Rasmussen's encephalitis is a rare syndrome characterized by intractable seizures, often associated with epilepsia partialis continua and symptoms of progressive hemispheric dysfunction.
D.J. O'Rourke, A. Bergin, A. Rotenberg, J. Peters, M. Gorman, A. Poduri, J. Cryan, H. Lidov, J. Madsen, C. Harini   +9 more
doaj   +1 more source

Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1

, 2008
Schimke immuno-osseous dysplasia (OMIM 242900) is an uncommon autosomal-recessive multisystem disease caused by mutations in SMARCAL1 (swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1), a gene encoding a ...
Armstrong, D.L., Boerkoel, C.F., Choi, K., Clewing, J.M., Deguchi, K., Elizondo, L.I., Fujita, Y., Hirano, R., Huang, C., Inoue, K., Kanemura, Y., Lou, S., Lucke, T., Marwedel, K.M., Northrop, J., Okano, H., Powell, R., SantaCruz, K., Sloan, E.A., van der Kooy, D., Willaime-Morawek, S.   +20 more
core   +1 more source

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly [PDF]

, 2017
Mutations of genes within the phosphatidylinositol-3-kinase (PI3K)-AKT-MTOR pathway are well known causes of brain overgrowth (megalencephaly) as well as segmental cortical dysplasia (such as hemimegalencephaly, focal cortical dysplasia and ...
Aaron M Wenger, Adeline Jacquinet, Anand Saggar, Andrew E Timms, Anna Lehman, Arya, Baek, Barkovich, Carpten, Chi Cheng, Chiara Pantaleoni, Cho, Chung, Conti, Crino, Diana Alcantara, Enrico Alfei, Fiona Stewart, Garg, Ghayda M Mirzaa, Gill Bejerano, Harada, Harendra Guturu, Hemming, Hussain, Jamuar, Jansen, John M Graham Jr., Jonathan A Bernstein, Karen Gripp, Kaylee Park, Keppler-Noreuil, Laura Baker, Lee, Lindhurst, László Sztriha, Margot I Van Allen, Mark O’Driscoll, Melinda Zombor, Mirzaa, Mirzaa, Mirzaa, Mirzaa, Mirzaa, Nakamura, Natalia Gomez-Ospina, Negishi, Nellist, Oana Caluseriu, Parikh, Park, Poduri, Renzo Guerrini, Riviere, Robert Hevner, Ronit Mesterman, Sarah Collins, Sarju G Mehta, Slavotinek, Sofia Ygberg, Takagi, Tokuda, Ute Moog, Valerio Conti, Wang, Wieck, William B Dobyns, Wilson, Yang   +68 more
core   +3 more sources

Predicting Epileptogenic Tubers in Patients With Tuberous Sclerosis Complex Using a Fusion Model Integrating Lesion Network Mapping and Machine Learning

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging, as these tubers lack distinct pathological or genetic markers to differentiate them from other cortical tubers.
Tinghong Liu, Qi Wang, Suhui Kuang, Dezhi Cao, Ping Ding, Shaohui Zhang, Haihua Wei, Zhirong Wei, Jinshan Xu, Xinyu Huang, Bing Liu, Shuli Liang   +11 more
wiley   +1 more source