Results 161 to 170 of about 73,869 (327)

Baseline characteristics and feasibility of clinical outcome measures in CDKL5 deficiency disorder: The CANDID observational study

Epilepsia, EarlyView.
Abstract Objective CDKL5 deficiency disorder (CDD) is a rare X‐linked developmental and epileptic encephalopathy caused by loss‐of‐function variants in the CDKL5 gene. Preclinical experiments using enzyme replacement or gene therapies show promise and could be transformative therapies.
Xavier Liogier d'Ardhuy, CANDID Partners, Tricia Cimms, Kristina Lindsten, Marco Rizzo, Alison Skrinar, Peter St. Wecker, Ana Mingorance, Orrin Devinsky   +8 more
wiley   +1 more source

A prevalence study of epilepsy in Hong Kong [PDF]

, 2003
Objectives. To examine epidemiological data on epilepsy for the Hong Kong west region. Design. Descriptive study. Setting. Epilepsy clinic, university teaching hospital, Hong Kong. Patients and methods.
Chan, KH, Cheng, TS, Fong, GCY, Fong, JKY, Ho, SL, Mak, W   +5 more
core  

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

Epilepsia, EarlyView.
Abstract Objective Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor genes have been associated with a wide spectrum of neurological disorders. We aimed to delineate the clinical trajectories associated with gain‐of‐function (GoF) and loss‐of‐function (LoF) variants in GABRB2 and GABRB3, and to develop a risk‐prediction model for gross
Sebastian Ortiz, Leonardo Affronte, Chiara Bagliani, Serene El‐Kamand, Anthony Sze Hon Kan, Isabel T. Kristoffersen, Rebekka S. Dahl, Anne F. Højte, Stéphane Auvin, Arjan Bouman, Shimriet Zeidler, Gerhard Kluger, Gaetan Lesca, Nicolas Chatron, Zeynep Goke‐Samar, Maria T. Papadopoulou, Matthildi Athina Papathanasiou Terzi, Elise Schaefer, Anne de Saint Martin, Sarah Baer, Mohammed Al Owain, Saud Takroni, Hesham Al‐Dhalaan, Paolo Bonanni, Alessandra Rossi, Nicoletta Zanotta, Marina Trivisano, Nicola Specchio, Angela de Dominicis, Pasquale Striano, Alessandro Orsini, Maria Margherita Mancardi, Sebastian Neuens, Melanie Jennesson‐Lyver, Ira Benkel‐Herrenbrueck, David Genevieve, Richard Sidlow, Kamer Tezcan, Ilona Krey, Johannes R. Lemke, Konrad Platzer, Damien Lederer, Inga Talvik, Ulvi Vaher, Kees P. J. Braun, Anne‐Marie Guerrot, Rebecca More, Matthias De Wachter, Sarah Weckhuysen, Evelina Carapancea, Maria Roberta Cilio, Julia Jacobs, Katalin Sterbova, Simona Balestrini, Renzo Guerrini, Giulio Peroni, Inger‐Lise Mero, Walaa ElNaggar, Nour Elkhateeb, Ariane Schmetz, Denise L. Chan, Ghayda M. Mirzaa, Boris Chaumette, Adrien Legrand, Amy McTague, Tommy Stödberg, Rebekah V. Harris, Samuel F. Berkovic, Ingrid E. Scheffer, Mary Chebib, Elena Gardella, Philip K. Ahring, Nathan L. Absalom, Rikke S. Møller   +73 more
wiley   +1 more source

Observations on the relationship between verbal explicit and implicit memory and neuronal density in the left and right hippocampus in temporal lobectomy patients. [PDF]

, 1998
The relationship between neuronal density and verbal memory in left and right hippocampal subfields was investigated in patients who underwent surgery for alleviation of temporal lobe epilepsy.
Beardsworth, Elizabeth, Esiri, Margaret, Zaidel, Dahlia W.   +2 more
core  

De novo TANC2 stop‐loss variant associated with developmental impairment and drug‐resistant epilepsy

Epileptic Disorders, EarlyView.
Matthew A. Hintermayer, Kenneth A. Myers
wiley   +1 more source

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy

Epilepsia, EarlyView.
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan, Beatrice Southby Goad, Meagan Allen, Jill Rodda, Kay L. Richards, Simone L. Ardern‐Holmes, Daniel Bamborschke, Daniel Fritzen, Inna Hughes, Kate Riney, Ana Roche Martinez, Angelo Russo, Adriane Sinclair, Stefano Sartori, Marina Trivisano, Angela De Dominicis, Nicola Specchio, Rikke S. Møller, Ingrid E. Scheffer, Walid Fazeli, Markus Wolff, Steven Petrou, Katherine B. Howell, Géza Berecki   +23 more
wiley   +1 more source

Economic Status and Health in Childhood: The Origins of the Gradient [PDF]

We show that the well-known positive association between health and income in adulthood has antecedents in childhood. Using the National Health Interview Surveys, the Panel Study of Income Dynamics, and the National Health and Nutrition Examination ...
Anne Case, Christina Paxson, Darren Lubotsky   +2 more
core  

A brief review about anxiety and aggressive behavior in pediatric age [PDF]

, 2018
Anxiety can be considered a normal experience of the human being and as such also of the child. It manifests itself in different ways according to the level of development: in the smaller the child, the more anxiety is expressed with manifestations that ...
Cerroni F., Chisari M. G., Cibelli G., Di Folco A., Franco S., Gallai B., Geraci D., Giugliano P., Grieco M., Lavano F., Lavano S. M., Magliulo R. M., Marotta R., Marsala G., Montana A., Murabito P., Parisi L., Picciocchi E., Polito A. N., Ro L., Romano P., Russo D., Salerno M., Sorrentino M., Testa D., Tripi G., Valenzano A.   +26 more
core  

Development and validation of a deep survival model to predict time to seizure from routine electroencephalography

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to develop and validate a deep survival model (EEGSurvNet) that analyzes routine electroencephalography (EEG) to predict individual seizure risk over time, comparing its performance to traditional clinical predictors such as interictal epileptiform discharges (IEDs).
Émile Lemoine, An Qi Xu, Mezen Jemel, Frédéric Lesage, Dang K. Nguyen, Elie Bou Assi   +5 more
wiley   +1 more source

Characterization of ictal/non-ictal EEG patterns and Neuronal Networks in Childhood Absence Epilepsy [PDF]

, 2020
Ami Kumar
openalex