Results 191 to 200 of about 15,708 (241)

Correction: SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy. [PDF]

Acta Epileptol
Liu W, Gao K, Du X, Wen S, Yan H, Wang J, Wang Y, Song C, Lin L, Ji T, Gu W, Jiang Y.   +11 more
europepmc   +1 more source

Response to anti‐seizure medications in children carrying novel or previously reported HCN1 gene variants

Epilepsia Open, EarlyView.
Abstract Objective Variants in the HCN1 gene cause a syndrome of childhood epilepsy and developmental disability with a broad phenotypic range. Many affected children manifest with early infantile epileptic encephalopathy (EIEE) and highly drug‐resistant epilepsy.
Marium N. Khan, Nicholas P. Poolos
wiley   +1 more source

Functional Characterization of a De Novo <i>SCN2A</i> Mixed Variant Linked to Early Infantile Developmental and Epileptic Encephalopathy. [PDF]

Neurol Genet
Corradi A, Riva A, Sterlini B, Morinelli L, Ludovico A, Madia F, Striano P, Albini M, Vitale P, Pusch M, Lombardo G, Elia M, Chatron N, Lesca G, Zara F, Falsaperla R, Ferrera L.   +16 more
europepmc   +1 more source

Long‐term developmental outcome in infantile epileptic spasms syndrome after high‐dose prednisolone and vigabatrin treatment

Epilepsia Open, EarlyView.
Abstract Objective To evaluate long‐term developmental outcomes and identify independent predictors of favorable developmental outcomes at 3 years of age in children with infantile epileptic spasms syndrome (IESS) treated with a standardized stepwise vigabatrin and high‐dose prednisolone protocol.
Soyoung Jang, Hui Jin Shin, Se Hee Kim, Joon Soo Lee, Ara Ko, Hoon‐Chul Kang   +5 more
wiley   +1 more source

BRAT1 Mutation - A Developmental and Epileptic Encephalopathy with a Recognizable Phenotype. [PDF]

Ann Indian Acad Neurol
Kamate M, Basanagouda T.
europepmc   +1 more source

Changes in effectiveness and safety in patients with Lennox–Gastaut syndrome transitioning from the fenfluramine randomized controlled trial to open‐label extension study

Epilepsia Open, EarlyView.
This graphical abstract provides an overview of the content from this post hoc analysis describing the trajectories of fenfluramine effectiveness and safety, along with dose changes over time, in patients with Lennox‐Gastaut syndrome. Abstract In the phase 3 randomized controlled trial (RCT; NCT03355209) of fenfluramine in Lennox–Gastaut syndrome (LGS),
Rima Nabbout, Orrin Devinsky, Lieven Lagae, Ingrid E. Scheffer, Renzo Guerrini, Joseph Sullivan, Antonio Gil‐Nagel, Sameer M. Zuberi, Kate Riney, Patrick Healy, Jayne Abraham, Rebecca Zhang Roper, Mélanie Langlois, Amélie Lothe, Kelly G. Knupp   +14 more
wiley   +1 more source

Variants in ATP6V0C are associated with Dravet-like developmental and epileptic encephalopathy. [PDF]

Epilepsia
Rong M, Marques PT, Ali QZ, Morcos R, Chandran I, Qaiser F, Møller RS, Bayat A, Rubboli G, Gardella E, Reuter MS, Sands TT, Scheffer IE, Schneider A, Poduri A, Wirrell E, Nabbout R, Sullivan J, Valente K, Auvin S, Knupp KG, Brunklaus A, Aledo-Serrano Á, Andrade DM.   +23 more
europepmc   +1 more source

From first seizure to specific antiseizure medication in Dravet syndrome: Quantifying delays in the DS'coverED study

Epilepsia Open, EarlyView.
Abstract Objective Dravet syndrome (DS) is a rare early‐onset developmental and epileptic encephalopathy with persistent delays between seizure onset and diagnosis. The DS'coverED study aimed to characterize current diagnostic timelines by examining each step and its duration, identifying residual barriers, and actionable solutions to optimize the ...
Loucas Christodoulou, Maria Ballarà Petitbò, Sergio Aguilera Albesa, Simona Borroni, Perrine Hugon, Ratna Kumar, Tullio Messana, Pierre Meyer, Frédéric Villéga, Kerstin A. Klotz   +9 more
wiley   +1 more source

A Novel Mouse Model for Developmental and Epileptic Encephalopathy by Purkinje Cell-Specific Deletion of <i>Scn1b</i>. [PDF]

J Neurosci
Guillén FI, Geist MA, Cheng SY, Harris AM, Treviño ME, Nishiyama H, Brumback AC, Howard MA.   +7 more
europepmc   +1 more source

Effectiveness and safety of cannabidiol in adult patients with epilepsy: A multicenter, retrospective study

Epilepsia Open, EarlyView.
Abstract Objective Cannabidiol (CBD) has demonstrated promising effectiveness and tolerability as adjunctive treatment in patients with severe childhood epilepsies. This study investigated the effectiveness and tolerability of CBD in adults with a history of Dravet syndrome (DS), Lennox–Gastaut syndrome (LGS), or tuberous sclerosis complex (TSC ...
Sara Sánchez‐Gamino, María Isabel Chamorro Muñoz, Pedro J. Serrano‐Castro, Pablo Hernández‐Vitorique, Lucía Rodríguez Jiménez, Yolanda López Moreno, Pablo Cabezudo‐García, Guillermina García Martín   +7 more
wiley   +1 more source