Results 221 to 230 of about 352,372 (280)

GABRA2‐related encephalopathy: Identification of two phenotypes with distinctive electroclinical features

Epilepsia, EarlyView.
Abstract Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor subunit genes are increasingly associated with epilepsy and neurodevelopmental disorders. Pathogenic variants in GABRA2, encoding the α‐2 subunit of GABAA receptors, have been recently reported.
Marie Adamo‐Croux, Chloé Angelini, Jérôme Aupy, Laurent Villard, Nathalie Villeneuve, Arnaud Chefdor, Yorsa Halleb, Maxime Colmard, Manon Degoutin, Gaetan Lesca, Perrine Charles, Boris Keren, Nicole Chemaly, Cyril Goizet, Mathieu Milh, Claire Bar   +15 more
wiley   +1 more source

The role of serum zinc and selenium levels in etiology of febrile seizures. [PDF]

Clin Exp Pediatr
Ataş Y, Poyrazoğlu HG.
europepmc   +1 more source

Development of a preclinical testing platform for clinically relevant therapy for Dravet syndrome

Epilepsia, EarlyView.
Abstract Objective Patients with drug‐resistant epilepsy, including Dravet syndrome, are frequently prescribed multiple antiseizure medications. Nevertheless, people with Dravet syndrome often have inadequate seizure control, and there is an ongoing unmet clinical need to identify novel therapeutics.
Jeffrey A. Mensah, Kyle E. Thomson, Jennifer L. Huff, Tia Freeman, Christopher A. Reilly, Joseph E. Rower, Cameron S. Metcalf, Karen S. Wilcox   +7 more
wiley   +1 more source

A new association between Kleefstra syndrome and Panayiotopoulos epilepsy. [PDF]

Ital J Pediatr
Giliberti A, Giustiniano S, Carbonaro Y, Frisina AM, Roccella M, Serra G, Nardello R.   +6 more
europepmc   +1 more source

Non‐discontinuation of antiseizure medication in seizure‐free patients with epilepsy: Reasons and predictors among neurologists and patients

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to investigate clinical and psychosocial factors associated with antiseizure medication (ASM) non‐discontinuation in seizure‐free patients with epilepsy among both neurologists and patients. Methods In this cross‐sectional study, neurologists documented their recommendations on ASM discontinuation ...
Maria Ilyas‐Feldmann, Luise Graf, Jakob I. Doerrfuss, Matthias Dipper‐Wawra, Nicoletta Doerr, Rebekka Lehmann, Christian Meisel, David Steinbart, Mirja Steinbrenner, Martin Holtkamp   +9 more
wiley   +1 more source

A Case Series and Review of Febrile-Infection Related Epilepsy Syndrome (FIRES). [PDF]

Children (Basel)
Spoden T, Hoftman A, Rascoff N, McCurdy D.   +3 more
europepmc   +1 more source

De novo pathogenic CSF1R variant implicates microglial dysfunction in pathogenesis of febrile infection‐related epilepsy syndrome

Epilepsia, EarlyView.
Abstract Febrile infection‐related epilepsy syndrome (FIRES) is a rare presentation of refractory status epilepticus following a febrile illness with resulting refractory epilepsy. Evidence supports the presence of immune dysregulation in patients with FIRES, but a monogenic basis for FIRES has not been identified in most cases.
Kristen S. Fisher, Jesse M. Levine, Alexander Ankar, Ruizhi Duan, Yi Chen Lai, Eyal Muscal, Sarah R. Risen, James J. Riviello, Pei‐Chien Tsai, Daniel G. Calame   +9 more
wiley   +1 more source

Dysregulation of the Cannabinoid System in Childhood Epilepsy: From Mechanisms to Therapy. [PDF]

Int J Mol Sci
Montebello G, Di Giovanni G.
europepmc   +1 more source

Molecular detection of pathogens in an equine fever diagnostic panel: 2019–2023

Equine Veterinary Journal, EarlyView.
Abstract Background A common diagnostic approach for febrile horses is to test for a panel of potential pathogens. Panels are curated by expert opinion and vary between diagnostic laboratories. Objectives To report the results of a newly developed equine fever diagnostic panel (EFDP) between 2019 and 2023 and evaluate the frequency of positive results.
Toby L. Pinn‐Woodcock, Melissa S. Aprea, Manigandan Lejeune, Joy E. Tomlinson   +3 more
wiley   +1 more source

Phenotypic Spectrum in Individuals With Pathogenic <i>GABRG2</i> Loss- and Gain-of-Function Variants. [PDF]

Neurology
Rossi A, Lin SXN, Absalom NL, Ortiz-De la Rosa S, Liao VWY, Mohammadi NA, Viswanathan S, Stödberg T, Danieli A, Bonanni P, Aeby A, Orsini A, Bonuccelli A, Rüegger A, Giraldez BG, Isidor B, Stüve B, Marini C, Cesaroni E, Fenger CD, Philippe C, Meunier C, Lederer D, Moortgat S, Spinelli E, Fallica E, Zeiner F, Bauman M, Licchetta L, Bisulli F, Operto FF, Benkel-Herrenbrueck I, Gorman KM, Johannesen KM, Platzer K, Schnabel F, Lagae L, Laufs M, Zordania R, Malone S, Messana T, Werckx W, Jonsson C, Afawi Z, Foiadelli T, Halleb Y, Stoeva R, Jennesson-Lyver M, Lesca G, Guerrini R, Berkovic SF, Scheffer IE, Chebib M, Gardella E, Møller RS, Rubboli G, Ahring PK.   +56 more
europepmc   +1 more source