keyword
https://read.qxmd.com/read/38532826/neuropathology-and-epilepsy-surgery-2024-update
#1
JOURNAL ARTICLE
Ingmar Blümcke
Neuropathology-based studies in neurosurgically resected brain tissue obtained from carefully examined patients with focal epilepsies remain a treasure box for excellent insights into human neuroscience, including avenues to better understand the neurobiology of human brain organization and neuronal hyperexcitability at the cellular level including glio-neuronal interaction. It also allows to translate results from animal models in order to develop personalized treatment strategies in the near future. A nice example of this is the discovery of a new disease entity in 2017, termed mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy or MOGHE, in the frontal lobe of young children with intractable seizures...
January 2024: Free neuropathology
https://read.qxmd.com/read/38523034/reprint-of-recessive-apc2-missense-variants-associated-with-epilepsies-without-neurodevelopmental-disorders
#2
JOURNAL ARTICLE
Liang Jin, Yun Li, Sheng Luo, Qian Peng, Qiong-Xiang Zhai, Jin-Xia Zhai, Liang-Di Gao, Jia-Jun Guo, Wang Song, Yong-Hong Yi, Na He, Yong-Jun Chen
OBJECTIVES: The APC2 gene, encoding adenomatous polyposis coli protein-2, is involved in cytoskeletal regulation in neurons responding to endogenous extracellular signals and plays an important role in brain development. Previously, the APC2 variants have been reported to be associated with cortical dysplasia and intellectual disability. This study aims to explore the association between APC2 variants and epilepsy. METHODS: Whole-exome sequencing (WES) was performed in cases (trios) with epilepsies of unknown causes...
March 21, 2024: Seizure: the Journal of the British Epilepsy Association
https://read.qxmd.com/read/38511905/combining-magnetic-resonance-fingerprinting-with-voxel-based-morphometric-analysis-to-reduce-false-positives-for-focal-cortical-dysplasia-detection
#3
JOURNAL ARTICLE
Zheng Ding, Siyuan Hu, Ting-Yu Su, Joon Yul Choi, Spencer Morris, Xiaofeng Wang, Ken Sakaie, Hiroatsu Murakami, Hans-Jürgen Huppertz, Ingmar Blümcke, Stephen Jones, Imad Najm, Dan Ma, Zhong Irene Wang
OBJECTIVE: 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. METHODS: We included 37 patients with pharmacoresistant focal epilepsy and FCD (10 IIa, 15 IIb, 10 mild Malformation of Cortical Development [mMCD], and 2 mMCD with oligodendroglial hyperplasia and epilepsy [MOGHE]). Fifty-nine healthy controls (HCs) were also included...
March 21, 2024: Epilepsia
https://read.qxmd.com/read/38508103/detection-of-somatic-and-germline-pathogenic-variants-in-adult-cohort-of-drug-resistant-focal-epilepsies
#4
JOURNAL ARTICLE
L Ferri, V Menghi, L Licchetta, P Dimartino, R Minardi, C Davì, L Di Vito, E Cifaldi, C Zenesini, F Gozzo, V Pelliccia, V Mariani, Y C C de Spelorzi, S Gustincich, M Seri, L Tassi, T Pippucci, F Bisulli
OBJECTIVE: This study investigates the prevalence of pathogenic variants in the mechanistic target of rapamycin (mTOR) pathway in surgical specimens of malformations of cortical development (MCDs) and cases with negative histology. The study also aims to evaluate the predictive value of genotype-histotype findings on the surgical outcome. METHODS: The study included patients with drug-resistant focal epilepsy who underwent epilepsy surgery. Cases were selected based on histopathological diagnosis, focusing on MCDs and negative findings...
March 19, 2024: Epilepsy & Behavior: E&B
https://read.qxmd.com/read/38501627/paediatric-symptomatic-seizures-in-india-unravelling-varied-etiologies-and-neuroimaging-patterns-a-multicentric-study
#5
JOURNAL ARTICLE
J Baradwaj, R Balaji, A Kumar, L Kannan, D Nayak
Pediatric neuroimaging presents a unique set of challenges, primarily stemming from the intricacies of normal myelination processes occurring within the initial two years of life. This complexity is particularly pronounced in the context of pediatric epilepsy, where a substantial proportion of neuroimaging cases appears normal, especially in instances of idiopathic or provoked seizures. Nevertheless, abnormalities in neuroimaging tend to manifest in cases of acute or remote symptomatic seizures. Notably, the etiological landscape of seizures in children diverges significantly from that observed in adults, with neurodevelopmental, neurometabolic, and neuro-infectious factors emerging as predominant contributors...
January 2024: Georgian Medical News
https://read.qxmd.com/read/38496361/ectopic-hcn4-provides-a-target-biomarker-for-the-genetic-spectrum-of-mtoropathies
#6
JOURNAL ARTICLE
Matthew Coleman, Paulo Pinares-Garcia, Sarah E Stephenson, Wei Shern Lee, Daniz Kooshavar, Catriona A Mclean, Katherine B Howell, Richard J Leventer, Christopher A Reid, Paul J Lockhart
BACKGROUND AND OBJECTIVES: Pathogenic variants in PI3K-AKT-mTOR pathway and GATOR1 complex genes resulting in hyperactivation of mechanistic target of rapamycin (mTOR) complex 1 are a major cause of drug-resistant epilepsy and focal cortical malformations (FCM). Resective neurosurgery is often required to achieve seizure control in patients with mTORopathies due to lack of effectiveness of nonsurgical therapies, including antiseizure medication and mTOR inhibitors. Elevated hyperpolarization-activated cyclic nucleotide-gated potassium channel isoform 4 (HCN4) has been proposed as a key marker in some mTOR-related brain malformations...
April 2024: Neurology. Genetics
https://read.qxmd.com/read/38491957/somatic-variants-as-a-cause-of-drug-resistant-epilepsy-including-mesial-temporal-lobe-epilepsy-with-hippocampal-sclerosis
#7
JOURNAL ARTICLE
Robert J Carton, Michael G Doyle, Hugh Kearney, Charles A Steward, Nicholas J Lench, Anthony Rogers, Erin L Heinzen, Seamus McDonald, Joanna Fay, Austin Lacey, Alan Beausang, Jane Cryan, Francesca Brett, Hany El-Naggar, Peter Widdess-Walsh, Daniel Costello, Ronan Kilbride, Colin P Doherty, Kieron J Sweeney, Donncha F O'Brien, David C Henshall, Norman Delanty, Gianpiero L Cavalleri, Katherine A Benson
OBJECTIVE: The contribution of somatic variants to epilepsy has recently been demonstrated, particularly in the etiology of malformations of cortical development. The aim of this study was to determine the diagnostic yield of somatic variants in genes that have been previously associated with a somatic or germline epilepsy model, ascertained from resected brain tissue from patients with multidrug-resistant focal epilepsy. METHODS: Forty-two patients were recruited across three categories: (1) malformations of cortical development, (2) mesial temporal lobe epilepsy with hippocampal sclerosis, and (3) nonlesional focal epilepsy...
March 16, 2024: Epilepsia
https://read.qxmd.com/read/38491953/analysis-of-clinical-characteristics-and-histopathological-transcription-in-40-patients-afflicted-by-epilepsy-stemming-from-focal-cortical-dysplasia
#8
JOURNAL ARTICLE
Ke Zhang, He Yao, Jixue Yang, Tianming Jia, Qiao Shan, Dongming Li, Mengchun Li, Ling Gan, Xinjun Wang, Yan Dong
OBJECTIVE: This study aims to comprehensively analyze the clinical characteristics and identify the differentially expressed genes associated with drug-resistant epilepsy (DRE) in patients with focal cortical dysplasia (FCD). METHODS: A retrospective investigation was conducted from July 2019 to June 2022, involving 40 pediatric cases of DRE linked to FCD. Subsequent follow-ups were done to assess post-surgical outcomes. Transcriptomic sequencing and quantitative reverse transcription polymerase chain reaction (qRT-PCR) were used to examine differential gene expression between the FCD and control groups...
March 16, 2024: Epilepsia Open
https://read.qxmd.com/read/38489520/correction-to-multimodal-mapping-of-regional-brain-vulnerability-to-focal-cortical-dysplasia
#9
(no author information available yet)
No abstract text is available yet for this article.
March 15, 2024: Brain
https://read.qxmd.com/read/38488289/why-did-my-seizures-start-now-influences-of-lesion-connectivity-and-genetic-etiology-on-age-at-seizure-onset-in-focal-epilepsy
#10
JOURNAL ARTICLE
Emma Macdonald-Laurs, Aaron E L Warren, Richard J Leventer, A Simon Harvey
OBJECTIVE: Patients with focal, lesional epilepsy present with seizures at variable ages. Larger lesion size and overlap with sensorimotor or default mode network (DMN) have been associated with younger age at seizure onset in cohorts with mixed types of focal cortical dysplasia (FCD). Here, we studied determinants of age at seizure onset in patients with bottom-of-sulcus dysplasia (BOSD), a discrete type of FCD with highly localized epileptogenicity. METHODS: Eighty-four patients (77% operated) with BOSD were studied...
March 15, 2024: Epilepsia
https://read.qxmd.com/read/38472513/deep-learning-based-automated-lesion-segmentation-on-pediatric-focal-cortical-dysplasia-ii-preoperative-mri-a-reliable-approach
#11
JOURNAL ARTICLE
Siqi Zhang, Yijiang Zhuang, Yi Luo, Fengjun Zhu, Wen Zhao, Hongwu Zeng
OBJECTIVES: Focal cortical dysplasia (FCD) represents one of the most common causes of refractory epilepsy in children. Deep learning demonstrates great power in tissue discrimination by analyzing MRI data. A prediction model was built and verified using 3D full-resolution nnU-Net for automatic lesion detection and segmentation of children with FCD II. METHODS: High-resolution brain MRI structure data from 65 patients, confirmed with FCD II by pathology, were retrospectively studied...
March 13, 2024: Insights Into Imaging
https://read.qxmd.com/read/38470820/a-case-report-of-craniofacial-intraosseous-xanthoma-in-a-patient-seeking-facial-feminization-surgery
#12
JOURNAL ARTICLE
Nghiem Nguyen, James Lee, Yuan Liu
BACKGROUND: Fibrous dysplasia (FD) is a benign developmental disorder of the bone that causes normal skeletal tissue to be replaced by excess fibrous tissue and poorly differentiated osteoblasts. Intraosseous xanthomas are benign intraosseous tumor growths characterized microscopically by the presence of lipid-laden foamy histiocytes, often with cortical expansion or disruption. Although FD commonly occurs in craniofacial bones, primary intraosseous xanthomas of the skull or facial skeleton are extremely rare...
February 27, 2024: Annals of Plastic Surgery
https://read.qxmd.com/read/38469176/emerging-insights-into-cephalic-neural-crest-disorders-a-single-center-experience
#13
JOURNAL ARTICLE
Manoj Kumar Nayak, Biswamohan Mishra, Sebastian Levejoseph, Ajay Garg, Kalyan Sarma, Biswajit Sahoo, Manjari Tripathi, Shailesh B Gaikwad
OBJECTIVES: Neural crest cells (NCCs) are transient structures in the fetal life in vertebrates, which develop at the junctional site of the non-neural and neural ectoderm, sharing a common developmental origin for diverse diseases. After Epithelio-mesenchymal (EMT) of the NCCs within the neural tube, delamination of NCCs occurs. After delamination, the transformation of these cells into various cell lineages produces melanocytes, bones, and cartilage of the skull, cells of the enteric and peripheral nervous system...
2024: Journal of Clinical Imaging Science
https://read.qxmd.com/read/38446345/long-term-effect-of-multichannel-tdcs-protocol-in-patients-with-central-cortex-epilepsies-associated-with-epilepsia-partialis-continua
#14
JOURNAL ARTICLE
M Daoud, C Durelle, A Fierain, El Youssef N, F Wendling, G Ruffini, P Benquet, F Bartolomei
Epilepsia partialis continua (EPC) is a rare type of focal motor status epilepticus that causes continuous muscle jerking in a specific part of the body. Experiencing this type of seizure, along with other seizure types, such as focal motor seizures and focal to bilateral tonic-clonic seizures, can result in a disabling situation. Non-invasive brain stimulation methods like transcranial direct current stimulation (tDCS) show promise in reducing seizure frequency (SF) when medications are ineffective. However, research on tDCS for EPC and related seizures is limited...
March 6, 2024: Brain Topography
https://read.qxmd.com/read/38444904/diagnostic-utility-of-exome-sequencing-followed-by-research-reanalysis-in-human-brain-malformations
#15
JOURNAL ARTICLE
Daniz Kooshavar, David J Amor, Kirsten Boggs, Naomi Baker, Christopher Barnett, Michelle G de Silva, Samantha Edwards, Michael C Fahey, Justine E Marum, Penny Snell, Kiymet Bozaoglu, Kate Pope, Shekeeb S Mohammad, Kate Riney, Rani Sachdev, Ingrid E Scheffer, Sarah Schenscher, John Silberstein, Nicholas Smith, Melanie Tom, Tyson L Ware, Paul J Lockhart, Richard J Leventer
This study aimed to determine the diagnostic yield of singleton exome sequencing and subsequent research-based trio exome analysis in children with a spectrum of brain malformations seen commonly in clinical practice. We recruited children ≤ 18 years old with a brain malformation diagnosed by magnetic resonance imaging and consistent with an established list of known genetic causes. Patients were ascertained nationally from eight tertiary paediatric centres as part of the Australian Genomics Brain Malformation Flagship...
2024: Brain communications
https://read.qxmd.com/read/38420724/intraoperative-ecog-in-bottom-of-the-sulcus-syndrome-using-a-novel-flexible-strip-electrode
#16
JOURNAL ARTICLE
Niccolò Biagioli, Sofia Morandi, Anna Elisabetta Vaudano, Matteo Pugnaghi, Elisa Moriconi, Giacomo Pavesi, Vincenzo Tramontano, Stefano Meletti
The recording of epileptiform discharges from bottom-of-sulcus focal cortical dysplasia (BOSD) is often difficult during intraoperative electrocorticography (ECoG) due to the deep localization. We describe the use in this scenario of a new-generation electrode strip with high flexibility, easily adapted to cortical gyri and sulci. A right-handed 20-year-old male with drug-resistant focal epilepsy due to BOSD of the inferior frontal gyrus and daily focal aware seizures was evaluated for epilepsy surgery. Based on electroclinical and neuroimaging results, a focal cortectomy guided by ECoG was proposed...
February 29, 2024: Epileptic Disorders: International Epilepsy Journal with Videotape
https://read.qxmd.com/read/38417211/automated-detection-of-focal-cortical-dysplasia-based-on-magnetic-resonance-imaging-and-positron-emission-tomography
#17
JOURNAL ARTICLE
Ruifeng Zheng, Ruotong Chen, Cong Chen, Yuyu Yang, Yi Ge, Linqi Ye, Pu Miao, Bo Jin, Hong Li, Junming Zhu, Shuang Wang, Kejie Huang
PURPOSE: Focal cortical dysplasia (FCD) is a common etiology of drug-resistant focal epilepsy. Visual identification of FCD is usually time-consuming and depends on personal experience. Herein, we propose an automated type II FCD detection approach utilizing multi-modal data and 3D convolutional neural network (CNN). METHODS: MRI and positron emission tomography (PET) data of 82 patients with FCD were collected, including 55 (67.1%) histopathologically, and 27 (32...
February 15, 2024: Seizure: the Journal of the British Epilepsy Association
https://read.qxmd.com/read/38405920/skeletal-abnormalities-caused-by-a-connexin43r239q-mutation-in-a-mouse-model-for-autosomal-recessive-craniometaphyseal-dysplasia
#18
I-Ping Chen, Yasuyuki Fujii, Iichiro Okabe, Ayano Hatori, Shyam Sah, Jitendra Kanaujiya, Melanie Fisher, Rachael Norris, Mark Terasaki, Ernst Reichenberger
Craniometaphyseal dysplasia (CMD), a rare craniotubular disorder, occurs in an autosomal dominant (AD) or autosomal recessive (AR) form. CMD is characterized by hyperostosis of craniofacial bones and flaring metaphyses of long bones. Many patients with CMD suffer from neurological symptoms. To date, the pathogenesis of CMD is not fully understood. Treatment is limited to decompression surgery. Here, we report a knock in (KI) mouse model for AR CMD carrying a R239Q mutation in CX43. Cx43 KI/KI mice replicate many features of AR CMD in craniofacial and long bones...
February 6, 2024: Research Square
https://read.qxmd.com/read/38404806/to-explore-the-potential-mechanisms-of-cognitive-impairment-in-children-with-mri-negative-pharmacoresistant-epilepsy-due-to-focal-cortical-dysplasia-a-pilot-study-from-gray-matter-structure-view
#19
JOURNAL ARTICLE
Yilin Zhao, Jieqiong Lin, Xinxin Qi, Dezhi Cao, Fengjun Zhu, Li Chen, Zeshi Tan, Tong Mo, Hongwu Zeng
OBJECTIVES: To investigate the characteristics of brain structure in children with focal cortical dysplasia (FCD)-induced pharmacoresistant epilepsy, and explore the potential mechanisms of cognitive impairment from the view of gray matter alteration. METHODS: 25 pharmacoresistant pediatric patients with pathologically confirmed focal cortical dysplasia (FCD), and 25 gender-matched healthy controls were included in this study. 3.0T MRI data and intelligence tests using the Wechsler Intelligence Scale for Children-Forth Edition (WISC-IV) were generated for all subjects...
February 29, 2024: Heliyon
https://read.qxmd.com/read/38402586/escrt-i-protein-ubap1-controls-ventricular-expansion-and-cortical-neurogenesis-via-modulating-adherens-junctions-of-radial-glial-cells
#20
JOURNAL ARTICLE
Danping Lu, Yiqiang Zhi, Huizhen Su, Xiang Lin, Jingjing Lin, Yan Shi, Wenxiang Yi, Chaoyin Hong, Tongtong Zhang, Zhifei Fu, Li-Yu Chen, Zhiqi Zhao, Rong Li, Zhiheng Xu, Wanjin Chen, Ning Wang, Dan Xu
Intricate cerebral cortex formation is orchestrated by the precise behavior and division dynamics of radial glial cells (RGCs). Endocytosis functions in the recycling and remodeling of adherens junctions (AJs) in response to changes in RGC activity and function. Here, we show that conditional disruption of ubiquitin-associated protein 1 (UBAP1), a component of endosomal sorting complex required for transport (ESCRT), causes severe brain dysplasia and prenatal ventriculomegaly. UBAP1 depletion disrupts the AJs and polarity of RGCs, leading to failure of apically directed interkinetic nuclear migration...
February 24, 2024: Cell Reports
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