Results 101 to 110 of about 116,693 (244)

Cognitive and behavioral clinical outcome assessments in children with developmental and epileptic encephalopathies: Issues and instruments

Epilepsia, EarlyView.
Abstract Children with developmental and epileptic encephalopathies (DEEs) face cognitive and behavioral challenges that may have a greater impact than seizures on their quality of life (QoL). The need to assess these nonseizure outcomes for evaluating treatments is increasingly recognized.
Cinzia Correale, Nicola Specchio, Jenny Downs, J. Helen Cross, Simona Cappelletti, Andrea Palacio‐Navarro, Sam Geuens, Kette Valente, Andreas Brunklaus, Colin Reilly   +9 more
wiley   +1 more source

Add‐on treatment with vinpocetine reduces seizure frequency and improves comorbidities in patients with loss‐of‐function γ‐aminobutyric acid type A receptor variants

Epilepsia, EarlyView.
Abstract Objective The semisynthetic compound vinpocetine has gained attention as a potential precision medicine for developmental and epileptic encephalopathies caused by loss‐of‐function (LoF) variants in γ‐aminobutyric acid type A (GABAA) receptor genes. As a positive allosteric modulator of GABAA receptors, case reports suggest that vinpocetine can
Cathrine E. Gjerulfsen, Vivian W. Y. Liao, Tomasz S. Mieszczanek, Anne V. Jakobsen, Elena Gardella, Kern Olofsson, Marina Nikanorova, Allan Bayat, Sebastian Ortiz, Sarah Weckhuysen, Cecilie Johannessen Landmark, Orrin Devinsky, Mary Chebib, Philip K. Ahring, Guido Rubboli, Rikke S. Møller   +15 more
wiley   +1 more source

Gut‐microbiota‐brain Axis and post‐traumatic epilepsy

Epilepsia Open, EarlyView.
Abstract There has been growing evidence that perturbations in gut‐microbiota‐brain axis (GMBA) are involved in mechanisms of chronic sequelae of traumatic brain injury (TBI). This review discusses the connection between GMBA and post‐traumatic epilepsy (PTE), the latter being a common outcome of TBI.
Andrey Mazarati
wiley   +1 more source

Unveiling sleep disturbances in KCNB1‐related disorders: Insights from a cohort of 78 individuals

Epilepsia Open, EarlyView.
Abstract Objectives Sleep disturbances are frequent comorbidities in epilepsies and developmental encephalopathies. This study aimed to characterize sleep abnormalities in individuals with KCNB1‐related disorders, focusing on their prevalence, clinical manifestations, and impact on daily functioning.
Giovanna Scorrano, Delphine Breuillard, Anais Thimon, Nicole Chemaly, Rima Nabbout   +4 more
wiley   +1 more source

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, EarlyView.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source

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

Genetic landscape of patients with atypical absence status epilepticus: A systematic review

Epilepsia Open, EarlyView.
Abstract Atypical absence status epilepticus (AASE) is a rare subtype of nonconvulsive status epilepticus (NCSE), characterized by clouding of consciousness and continuous or fluctuating epileptiform activity, generally at a frequency below 3 Hz. Only sparse literature exists on the genetic conditions associated with it.
Maria Cristina Cioclu, Giada Giovannini, Stefano Meletti   +2 more
wiley   +1 more source

Beyond seizures: A multidimensional approach to non‐seizure issues in Lennox–Gastaut syndrome. Insights from Italian experts

Epilepsia Open, EarlyView.
Abstract Non‐seizure issues (NSIs), including cognition, behavior/psychiatric symptoms, adaptive and social functioning, sleep, autonomic, and motor impairments, often shape day‐to‐day outcomes in Lennox–Gastaut syndrome (LGS) more than seizures, yet clinicians lack LGS‐specific, feasible assessment pathways.
Giancarlo Di Gennaro, Domenica Immacolata Battaglia, Paolo Bonanni, Gian Marco Duma, Antonietta Coppola, Edoardo Ferlazzo, Dario Pruna, Carlo Di Bonaventura   +7 more
wiley   +1 more source

Leptin Reduces Running in a Rodent Anorexia Nervosa Model via a Distributed Neural Network

European Eating Disorders Review, EarlyView.
ABSTRACT Objective Hyperactivity is a persistent and clinically relevant symptom in anorexia nervosa (AN). Hyperactivity is inversely correlated with leptin levels. While systemic leptin administration attenuates hyperactivity in rodent models, the specific brain regions mediating this effect remain unclear.
Nick J. M. Papavoine, Melissa N. Veendijk, Jessie Nijman, Mieneke C. M. Luijendijk, Inge G. Wolterink‐Donselaar, Frank J. Meye, Roger A. H. Adan   +6 more
wiley   +1 more source

‘You Can Be Simultaneously Powerful and Marginalised at the Same Time in Different Ways’. An Intersectional Examination of Barriers and Facilitators of Help‐Seeking for Eating Disorders by People From Under‐Served Groups

European Eating Disorders Review, EarlyView.
ABSTRACT Objective To explore barriers and facilitators to help‐seeking by people from under‐served groups in eating disorders (EDs). Methods Seventeen participants with lived experience of an ED, identifying as members of groups traditionally under‐served in ED research (ethnic minority, sexual or gender minority, or men), took part in semi‐structured
Jessica Wilkins, Lucy Gallagher, Karina L. Allen, Ulrike Schmidt   +3 more
wiley   +1 more source