Results 141 to 150 of about 15,708 (241)

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

Longitudinal changes in developmental trajectory following early hemispherotomy in early infantile developmental and epileptic encephalopathy. [PDF]

Epilepsy Behav Rep
Ueda T, Suzuki H, Mitsuhashi T, Nishioka K, Nomura K, Akiba T, Matsuda S, Igarashi A, Sugano H, Urabe Y, Inaba E, Iimura Y, Kondo A.   +12 more
europepmc   +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

A 21-Year Diagnostic Odyssey in TBC1D24-Associated Developmental and Epileptic Encephalopathy With Favorable Response to Corpus Callosotomy: A Case Report. [PDF]

Cureus
Pacheco-Abbud A, Pérez-Arzola AA, Martínez Torres AS, Fernández-Garza LE, Rojas VG, Arbeu-Reyes M, Juárez-Melchor D, López-Quecho J, Crisanto-López IE.   +8 more
europepmc   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

FRRS1L gene replacement ameliorates disease phenotypes in the mouse model of developmental and epileptic encephalopathy 37. [PDF]

Neurotherapeutics
Sheibani M, Alao EO, Mariam U, Wu J, Kasiri S, Talai A, Schwenk J, Fakler B, Gray SJ, Minassian BA.   +9 more
europepmc   +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

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2-developmental and epileptic encephalopathy. [PDF]

Epilepsia
Hamze M, Whitney R, Ville D, Villeneuve N, Hartmann AM, Becker L, Hausmann J, Zhang J, Brier C, Pisella LI, Friedel P, Labalme A, Alix E, Chatron N, Sanlaville D, Gory-Fauré S, Denarier E, Porcher C, Lesca G, Medina I.   +19 more
europepmc   +1 more source

Timing is everything: The effect of early‐life seizures on developing neuronal circuits subserving spatial memory

Epilepsia Open, EarlyView.
Abstract Spatial memory, the aspect of memory involving encoding and retrieval of information regarding one's environment and spatial orientation, is a complex biological function incorporating multiple neuronal networks. Hippocampus‐dependent spatial memory is not innate and emerges during development in both humans and rodents.
Gregory L. Holmes
wiley   +1 more source

Functional and pharmacological characterization of the <i>SCN2A</i> variant p.C258R with mixed gain and loss of function causing developmental and epileptic encephalopathy type 11. [PDF]

Epilepsy Behav Rep
Köppel A, de Vries H, Jamili M, Stanke C, Brandl U, Leipold E, Heinemann SH.   +6 more
europepmc   +1 more source