Results 151 to 160 of about 156,479 (260)

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy

Epileptic Disorders, EarlyView.
Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini, Evripidis Pityrigkas, Zoi Kallia, Georgia Pepe, Antonis Frontistis, Dimitrios Profer, Vasilios Kimiskidis   +6 more
wiley   +1 more source

ATP1A3-related syndromes: our case-series unveiling a dynamic, fever-triggered and overlapping array of neurological phenotypes. [PDF]

Neurol Sci
Errichiello G, Bernardo P, Acquaviva F, Troisi S, Rosa M, Bargiacchi G, Esposito F, Rubino A, Carotenuto M, Varone A, D'Acunto L.   +10 more
europepmc   +1 more source

Diagnostic Lag in Precision Medicine

Clinical Pharmacology &Therapeutics, EarlyView.
Petr Heneberg
wiley   +1 more source

Effects of fenfluramine and sigma‐1‐dependent pharmacological and genetic modulation in a mouse kindling model

Epilepsia, EarlyView.
Abstract Objective Sigma‐1 is a chaperone protein that serves as a key homeostatic regulator, implicated in neuronal excitability and seizure control. Positive allosteric modulators offer a use‐dependent means to enhance Sigma‐1 activity, potentially with favorable tolerability compared to direct agonists.
Eva‐Lotta von Rüden, Verena Buchecker, Amelie Wagner, Victoria M. Stocker, Liga Zvejniece, Heidrun Potschka   +5 more
wiley   +1 more source

Cerebello-Brainstem Dominant Form of X-linked Adrenoleukodystrophy Without Apparent Brain MRI Abnormalities at Disease Onset. [PDF]

Cerebellum
Nakagawa Y, Sugiyama A, Shibuya K, Yokota H, Matsukawa T, Ishiwata K, Mori M.   +6 more
europepmc   +1 more source

Effectiveness and tolerability of fenfluramine in pediatric and adult patients with developmental and epileptic encephalopathies: A multicenter, retrospective, real‐world clinical‐practice study

Epilepsia, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by drug‐resistant seizures and developmental slowing/regression. We examined the efficacy and tolerability of fenfluramine (FFA) in pediatric and adult patients with Lennox–Gastaut syndrome (LGS), Dravet syndrome (DS), and other DEEs.
Vicente Villanueva, Elena González‐Alguacil, Patricia Smeyers, Sara Hernández, Victor Soto‐Insuga, Alejandro Fernández‐Cabrera, Laura Olivié, Teresa de Santos, Beatriz Parejo, Lucas Iacampo, Belén Ortuño, Javier Aparicio, Montserrat Fuentes, Juan Rodriguez‐Uranga, Paula Martínez‐Agredano, José Carlos Estévez, Angel Aledo‐Serrano, Rocio Martin‐Alvarez, David Conejo, Belen Baena, Blanca Mercedes‐Álvarez, Yolanda López, Alba Sierra‐Marcos, Rocio Trincado‐Lamuño, Mouna Ennazeh, Jesús González de la Aleja, Julia Renau, Maria Dolores Castro‐Vilanova, Fátima Romero‐Aguilera, José M. Serratosa   +29 more
wiley   +1 more source

Ataxia With Vitamin E Deficiency Syndrome and a Novel <i>TTPA</i> Variant: A Paired Case Report. [PDF]

Neurol Genet
Baso G, Magri F, Sciacco M, Corti SP, Comi GP, Ronchi D, Velardo D.   +6 more
europepmc   +1 more source

Progress report on new epilepsy treatments: A summary of the Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVIII). II. Treatments in more advanced clinical development

Epilepsia, EarlyView.
Abstract This article summarizes data for 13 investigational treatments for which at least preliminary seizure outcome data in patients with epilepsy were reported at the Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices held in Madrid, Spain, on May 3–6, 2026.
Meir Bialer, Cecilie Johannessen Landmark, Matthias J. Koepp, Emilio Perucca, Piero Perucca, Torbjörn Tomson, H. Steve White, Elaine Wirrell   +7 more
wiley   +1 more source

Frontal ataxia: a frequent but underrecognized disorder in the spectrum of ataxias. [PDF]

Arq Neuropsiquiatr
Cassarotti B, Bonilha PAAM, Nunes TEM, Coutinho L, Camargo CHF, Teive HAG.   +5 more
europepmc   +1 more source

Progress report on new epilepsy treatments: A summary of the Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVIII). I. Treatments in preclinical and early clinical development

Epilepsia, EarlyView.
Abstract Over the last 34 years, the Eilat Conference on New Antiepileptic Drugs and Devices has provided an interactive forum for stakeholders to discuss investigational and recently licensed treatments for seizures and epilepsy. The Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVIII) took place in Madrid, Spain, on May 3 ...
Meir Bialer, Cecilie Johannessen Landmark, Matthias J. Koepp, Emilio Perucca, Piero Perucca, Torbjörn Tomson, H. Steve White, Elaine Wirrell   +7 more
wiley   +1 more source