Results 111 to 120 of about 82,453 (313)

A Language‐Guided Multimodal Foundation Model for Zero‐Shot and Multi‐Task Brain Signal Analysis

Advanced Intelligent Systems, EarlyView.
METIS aligns brain signals with natural‐language instructions to enable zero‐shot and multi‐task brain signal analysis. Pretrained on over 70 000 h of EEG and iEEG recordings, it generalizes across sleep stage classification, epilepsy detection, and neurological disorder diagnosis, providing a scalable foundation model for clinically meaningful brain ...
Mingzhi Chen, Yiyu Gui, Guibo Luo, Yuchao Yang   +3 more
wiley   +1 more source

Automated hippocampal segmentation in patients with epilepsy: Available free online [PDF]

, 2013
Hippocampal sclerosis, a common cause of refractory focal epilepsy, requires hippocampal volumetry for accurate diagnosis and surgical planning. Manual segmentation is time-consuming and subject to interrater/intrarater variability.
Behr, C, Williams, EJ, Burdett, JL, Cardoso, MJ, Ourselin, S, Bartlett, PA, Espak, M, Duncan, JS, Winston, GP   +8 more
core  

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Accuracy of an online tool to assess appropriateness for an epilepsy surgery evaluation-A population-based Swedish study [PDF]

, 2018
Objective: The Canadian Appropriateness of Epilepsy Surgery (CASES) tool was developed to help physicians identify patients who should be referred for an epilepsy surgery evaluation.
Lukmanji, S., Wiebe, S., Jette, N., Malmgren, Kristina,, Altura, K. C., Rydenhag, Bertil,   +5 more
core   +1 more source

Epilepsy surgery in bifrontal injury from prior craniopharyngioma resections

Epilepsy and Behavior Case Reports, 2014
Epilepsy surgery in frontal lobe epilepsy (FLE) has less favorable seizure-free outcomes than temporal lobe epilepsies. Possible contributing factors include fast propagation patterns and large clinically silent areas which are characteristics of the ...
Monisha Goyal, Matthew Thompson, Alyssa Reddy, Allan Harrison, Jeffrey Blount   +4 more
doaj   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Stigma and attitudes on epilepsy - A study with secondary school students [PDF]

, 2007
Purpose: To evaluate whether an inappropriate attitude towards a person having an epileptic seizure contributes to the stigma found in society and whether an appropriate attitude helps to diminish it in the short term; to perform a long term ...
Sander, JW, Gail S. Bell, Fernandes, PT, Bell, GS, Paula T. Fernandes, Josemir W. Sander, Reno, BA, Li M. Li, Li, LM, Brenda A. Reno   +9 more
core   +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

Heart rate variability remains reduced and sympathetic tone elevated after temporal lobe epilepsy surgery [PDF]

, 2013
PurposeThere is evidence of autonomic dysregulation in temporal lobe epilepsy. The structures removed during temporal lobectomy are important centers of central cardiovascular control; therefore surgery may conceivably alter the cardiovascular autonomic ...
Demirci, Mehmet, Cataltepe, Oguz, Saygi, Serap, Dericioglu, Nese, Akalan, Nejat   +4 more
core   +1 more source

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source