Results 111 to 120 of about 1,687,814 (309)

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Complications of Epilepsy Surgery

Neurosurgery Clinics of North America, 1993
In the treatment of patients with medically intractable epilepsy, neurosurgeons are involved in the application of invasive monitoring procedures and definitive surgical therapies, including resective and disconnection surgery. Each alternative intervention carries with it a unique set of potential adverse outcomes or complications, which provides the ...
W H, Pilcher, W G, Rusyniak
openaire   +2 more sources

Health Technology Assessment report on the presurgical evaluation and surgical treatment of drug-resistant epilepsy.

, 2013
PURPOSE: Epilepsy is a neurologic disorder with major social impact. Surgery is avaluable option in patients who are not responding to antiepileptic drugs.
Rubboli G, Tassi L, LoRusso G, Canevini MP, Guerrini R, Spreafico R, SCERRATI, MASSIMO, Colicchio G, Marras CE, Commission on Epilepsy Surgery of the Italian League Against Epilepsy, Tinuper P   +10 more
core  

Stigma scale of epilepsy - Validation process [PDF]

, 2007
Purpose: To validate a Stigma Scale of Epilepsy (SSE). Methods: The SSE was completed by 40 adult with epilepsy attending an Outpatient Epilepsy Clinic at the University Hospital of UNICAMP, and by 40 people from the community. People were interviewed on
Sander, JW, Fernandes, PT, Salgado, PCB, Noronha, ALA, Li, LM   +4 more
core  

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

, 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

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

SinTransNet: an EEG-based deep learning framework for infantile epileptic spasms syndrome detection

BMC Medical Informatics and Decision Making
Infantile Epileptic Spasms Syndrome (IESS) represents a severe form of developmental epileptic encephalopathy in infancy, characterized by clusters of spasms and hypsarrhythmia patterns on electroencephalogram (EEG), which often lead to long-term ...
Junyuan Feng, Zhenzhen Liu, Linlin Shen, Xiaoling Luo, Yan Chen, Lin Li, Tian Zhang   +6 more
doaj   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 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  

Epilepsy surgery in the United States: Analysis of data from the National Association of Epilepsy Centers

, 2015
To examine trends in epilepsy-related surgical procedures performed at major epilepsy centers in the US between 2003 and 2012, and in the service provision infrastructure of epilepsy centers over the same time period.
Daif, Ahmad, Zrik, Ahmad, Malkhachroum, Ayham M, Labiner, David M, Lhatoo, Samden D, Schiltz, Nicholas M, Alkhachroum, Ayham, Kaiboriboon, Kitti   +7 more
core   +1 more source