Results 61 to 70 of about 6,686 (185)

Adeno‐associated virus‐mediated restoration of NaV1.1 in targeted brain regions ameliorates epilepsy in symptomatic Dravet syndrome mice

Epilepsia, EarlyView.
Abstract Objective Dravet syndrome (DS) is a developmental and epileptic encephalopathy primarily caused by haploinsufficiency of the SCN1A gene, which encodes the alpha subunit of NaV1.1 voltage‐gated sodium channel. The disease manifests with febrile and spontaneous seizures, developmental delay, cognitive impairment, and increased risk of sudden ...
Martina Mainardi, Simone Brusco, Serena Gea Giannelli, Vania Broccoli, Gaia Colasante   +4 more
wiley   +1 more source

Establishing consensus diagnostic criteria for ring chromosome 20 syndrome: A modified electronic Delphi consensus study

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to establish expert consensus clinical and diagnostic criteria for ring chromosome 20 syndrome using a modified electronic Delphi process. Methods In this modified two‐round electronic Delphi consensus study, international experts rated candidate statements using a 9‐point Likert scale.
Abizairie Sánchez‐Feliciano, William D. James, Mark P. Fitzgerald, Allison Watson, Angela Peron, Antonio Gil‐Nagel, Kenneth A. Myers, Kentaro Tokumoto, Lieven Lagae, Nancy B. Spinner, Rhys H. Thomas, Rudolf R. Roth, Sarah Woodson, Tim Buckinx, Yushi Inoue, John S. Barbieri   +15 more
wiley   +1 more source

Altered ventilatory responses to hypercapnia-hypoxia challenges in a preclinical SUDEP model involve orexin neurons

Neurobiology of Disease
Failure to recover from repeated hypercapnia and hypoxemia (HH) challenges caused by severe GCS and postictal apneas may contribute to sudden unexpected death in epilepsy (SUDEP).
Shruthi H. Iyer, Jillian E. Hinman, Ted Warren, Stephanie A. Matthews, Timothy A. Simeone, Kristina A. Simeone   +5 more
doaj   +1 more source

Comparative assessment of artificial intelligence chatbots' performance in responding to healthcare professionals' and caregivers' questions about Dravet syndrome

Epilepsia Open, EarlyView.
Abstract Objective Artificial intelligence chatbots have been a game changer in healthcare, providing immediate, round‐the‐clock assistance. However, their accuracy across specific medical domains remains under‐evaluated. Dravet syndrome remains one of the most challenging epileptic encephalopathies, with new data continuously emerging in the ...
Joana Jesus‐Ribeiro, Eugenia Roza, Bárbara Oliveiros, Joana Barbosa Melo, Mar Carreño   +4 more
wiley   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

MEDICOLEGAL AND ETHICAL ASPECTS OF A DEATH CASE DUE TO EPILEPSY: CLINICAL CASE, CLINICAL FORENSICS, OR FORENSIC PATHOLOGY?

Jurnal Kedokteran Diponegoro
Background: An unwitnessed death in a man with epilepsy, found in a bathroom with a head injury and immersion, raises key clinical and forensic concerns.
Adji Suwandono, Hedva Rayna Hitipeuw, Funica Asri Rachmawaty, Sandy Adi Nugraha Pratama, Alfonsus Aryo Sunu Bakti   +4 more
doaj   +1 more source

New insights into epileptic spasm generation and treatment from the TTX animal model

Epilepsia Open, EarlyView.
Abstract Currently, we have an incomplete understanding of the mechanisms underlying infantile epileptic spasms syndrome (IESS). However, over the past decade, significant efforts have been made to develop IESS animal models to provide much‐needed mechanistic information for therapy development.
John W. Swann, Carlos J. Ballester‐Rosado, Chih‐Hong Lee   +2 more
wiley   +1 more source

Sudden, unexpected death in epilepsy in children

Seizure, 1997
Sudden, unexpected death in epilepsy (SUDEP) remains a controversial and enigmatic syndrome, particularly in children where the incidence, prevalence and risk factors may, and probably do, differ from adults. This study demonstrates (and further reinforces) the difficulties and inability of retrospective and coroner/death certificate-derived data in ...
openaire   +2 more sources

Association of hyperventilation-induced heart rate variability and sudden unexpected death in epilepsy in drug-resistant epilepsy

Arquivos de Neuro-Psiquiatria
Background Within the general epilepsy population, the incidence of Sudden Unexpected Death in Epilepsy (SUDEP) ranges from approximately 0.35 to 2.3 per 1,000 individuals per year.
Demet Ilhan Algin, Oguz Erdinc
doaj   +1 more source

Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?

Frontiers in Neurology, 2020
Sudden unexpected death in epilepsy (SUDEP) is the most common cause of premature mortality in individuals with epilepsy. Acute and adaptive changes in heart rhythm in epilepsy implicate cardiac dysfunction as a potential pathogenic mechanism in SUDEP ...
Lauren E. Bleakley, Ming S. Soh, Richard D. Bagnall, Richard D. Bagnall, Lynette G. Sadleir, Samuel Gooley, Christopher Semsarian, Christopher Semsarian, Ingrid E. Scheffer, Ingrid E. Scheffer, Ingrid E. Scheffer, Samuel F. Berkovic, Christopher A. Reid   +12 more
doaj   +1 more source