Results 201 to 210 of about 15,708 (241)

Neurodevelopmental features in KCNQ2 developmental and epileptic encephalopathy may have limited associations with K_V7.2 dysfunction. [PDF]

Epilepsia Open
Bidwell JS, Vanoye CG, Desai RR, Berg AT, George AL.   +4 more
europepmc   +1 more source

Impact of vigabatrin on risk of relapse of infantile spasms

Epilepsia Open, EarlyView.
Abstract Objective Vigabatrin is an effective treatment for infantile epileptic spasms syndrome (IESS), but relapse remains a clinical challenge. The ideal dose and duration of treatment after response are unknown. We set out to identify treatment‐related predictors of IESS relapse after initial vigabatrin response. Methods We conducted a retrospective
Yaretson I. Carmenate, Hayoung E. Ahn, Haley R. Peters, Hiroki Nariai, Rajsekar R. Rajaraman, Shaun A. Hussain   +5 more
wiley   +1 more source

Aminopyridine treatment for an adult patient of developmental and epileptic encephalopathy with a gain-of-function mutation in KCNA2. [PDF]

Genes Dis
Gao L, Jia Y, Yang Y, Chen J, Ren L.
europepmc   +1 more source

Efficacy and safety of fenfluramine in Dravet syndrome: The impact of patient clinical characteristics

Epilepsia Open, EarlyView.
This graphical abstract provides an overview of the content from this post hoc analysis evaluating the efficacy and safety of fenfluramine in patients with Dravet syndrome stratified by age, number of previously attempted antiseizure medications, and SCN1A pathogenic variant status using data pooled from the three pivotal randomized controlled trials ...
Rima Nabbout, Joseph Sullivan, Stéphane Auvin, J. Helen Cross, Orrin Devinsky, Antonio Gil‐Nagel, Renzo Guerrini, Kelly G. Knupp, M. Scott Perry, Rocío Sánchez‐Carpintero, An‐Sofie Schoonjans, Ingrid E. Scheffer, Nicola Specchio, Adam Strzelczyk, James Wheless, Elaine C. Wirrell, Diego Morita, Patrick Healy, Mélanie Langlois, Amélie Lothe, Lieven Lagae   +20 more
wiley   +1 more source

Developmental and epileptic encephalopathy in patients with epilepsy due to hypothalamic hamartomas. [PDF]

Epilepsia
Wagner K, Demerath T, Metzger S, Niedermoser F, Metternich B, Putzar L, Urbach H, San Antonio-Arce V, Klotz KA, Schulze-Bonhage A.   +9 more
europepmc   +1 more source

Efficacy of stiripentol, fenfluramine, and their combination on clinical outcomes in Dravet syndrome: A preliminary report

Epilepsia Open, EarlyView.
Abstract Objective Stiripentol and fenfluramine are approved treatments for Dravet syndrome (DS), but real‐world data comparing their effectiveness and combined use remain limited. Our study aims to explore associations between treatment with stiripentol, fenfluramine, and their combination and clinical outcomes in patients with DS.
Paolo Surdi, Marina Trivisano, Mattia Mercier, Nicola Pietrafusa, Angela De Dominicis, Costanza Calabrese, Simona Cappelletti, Nicola Specchio   +7 more
wiley   +1 more source

Knockdown-Replace: A New Dynamic for Treatment of Dynamin-1 Related developmental and epileptic encephalopathy (DEE). [PDF]

Epilepsy Curr
Wagnon JL.
europepmc   +1 more source

Silence around SUDEP and its impact on caregivers of individuals with developmental and epileptic encephalopathies: An international survey

Epilepsia Open, EarlyView.
Abstract Objective Sudden Unexpected Death in Epilepsy (SUDEP) is the leading cause of epilepsy‐related mortality, particularly in individuals with Developmental and Epileptic Encephalopathies (DEEs). The goal of this work is to assess SUDEP‐related knowledge, information practices, emotional and psychological impact, and the use of preventive measures
José Ángel Aibar, Ana Cantó Martínez, David Alarcón Alarcón, Eulalia Turón‐Viñas, Rima Nabbout, Isabella Brambilla, Franck Kalume, Danielle Andrade, Simona Giorgi   +8 more
wiley   +1 more source

Potassium current inactivation as a novel pathomechanism for KCNQ2 developmental and epileptic encephalopathy. [PDF]

Epilepsia
Gaspar IL, Terrone G, Carleo G, Carotenuto L, Miceli F, De Vita G, Taglialatela M.   +6 more
europepmc   +1 more source

Fenfluramine in Rett syndrome: A multidimensional clinical study

Epilepsia Open, EarlyView.
Abstract Objective Rett syndrome (RTT) is a severe neurodevelopmental disorder frequently associated with drug‐resistant epilepsy, autonomic dysfunction, respiratory abnormalities, sleep disturbances, and behavioral impairment. Fenfluramine has shown efficacy in developmental and epileptic encephalopathies and may provide broader therapeutic benefits ...
Elena Gonzalez‐Alguacil, Nuria Lamagrande Casanova, Manuel Luján Bonete, David Mansilla Lozano, Juan José García Peñas, María Ballará Petitbó, Rocío Trincado Lamuño, Verónica Cantarín‐Extremera, Raquel Díaz Conejo, César Rodríguez Sánchez, Adrián García Ron, Víctor Soto Insuga   +11 more
wiley   +1 more source