Results 171 to 180 of about 15,708 (241)

The multiple hit model of infantile and epileptic spasms: The 2025 update

Epilepsia Open, EarlyView.
Abstract Objective Infantile and epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy manifesting with epileptic spasms and poor neurodevelopmental outcomes. There is an urgent need for the development of more effective and tolerated therapies.
Aristea S. Galanopoulou, Wenzhu B. Mowrey, Wei Liu, Anna Maria Katsarou, Qianyun Li, Oleksii Shandra, Solomon L. Moshé   +6 more
wiley   +1 more source

Mislocalization of KCNQ2 Channels as a Pathogenic Mechanism in KCNQ2 Developmental and Epileptic Encephalopathy. [PDF]

J Neurosci
Springer K, Soh H, Paz Zavala R, Varghese N, Lutz C, Zuberi AR, Jackson AC, Tzingounis AV.   +7 more
europepmc   +1 more source

Ketogenic diet for infantile epileptic spasms

Epilepsia Open, EarlyView.
Abstract Approximately half of all cases of Infantile Epileptic Spasms Syndrome (IESS) do not respond to vigabatrin and hormonal therapies. There is no clear consensus as to the second‐line therapy for IESS. Ketogenic diet (KD) has emerged as an effective treatment for certain drug‐resistant epilepsies and in many cases of IESS.
Morris H. Scantlebury, Anamika Choudhary, Andy Cheuk‐Him Ng, Cezar Gavrilovici   +3 more
wiley   +1 more source

Congenital disorder of glycosylation type IIb in an infant with developmental and epileptic encephalopathy. [PDF]

BMJ Case Rep
Shwetabh RK, Singh A, Mandal K, Naranje K, Verma A.   +4 more
europepmc   +1 more source

Optimizing polytherapy management for Dravet syndrome in the United States: A National Expert Consensus

Epilepsia Open, EarlyView.
ABSTRACT Objectives Dravet syndrome (DS) is a severe, drug‐resistant developmental and epileptic encephalopathy (DEE) that requires polytherapy for adequate seizure control. The need to combine multiple antiseizure medications (ASMs), together with variability in seizure types, safety considerations, and evolving patient needs, makes treatment ...
Elaine Wirrell, Joseph Sullivan
wiley   +1 more source

The Use of Synaptic Extracellular Myo-Inositol to Treat Developmental and Epileptic Encephalopathy. [PDF]

Ann Child Neurol Soc
Vos EN, Demirbas D, Rodan L, Yang E, Prabhu SP, Chen J, Huang X, Qi W, Haynes RL, Lehtinen MK, Bennett MJ, He M, Pearl PL, Rubio-Gozalbo ME, Poduri A, Berry GT.   +15 more
europepmc   +1 more source

Real‐world use of Cenobamate in pediatric drug‐resistant epilepsy: A European multicenter retrospective study

Epilepsia Open, EarlyView.
Abstract Pediatric drug‐resistant epilepsy (DRE) remains a significant clinical challenge, with few effective pharmacological options. This European multicenter retrospective study assessed the real‐world efficacy, tolerability, and retention of off‐label cenobamate (CNB) in 108 children and adolescents with DRE (median age: 13.83 years, range 3.9–19.8)
Konstantin L. Makridis, Thomas Bast, Stéphane Auvin, Pavel Krsek, Matyas Ebel, Eva Breuer, Mira Beckhaus, Matúš Bašovský, Pavlína Danhofer, Ondřej Horák, Alessandro Orsini, Gonzalo Alonso Ramos Rivera, Hana Medřická, Steffen Syrbe, Angela M. Kaindl   +14 more
wiley   +1 more source

A novel de novo RNF13 variant in developmental and epileptic encephalopathy 73: genotype-phenotype correlation and literature review. [PDF]

BMC Neurol
Zhang Q, Yang Q, Zhou X, Zhang S, Ruan Y, Luo J.   +5 more
europepmc   +1 more source

Expanding the electroclinical spectrum of TANC2‐related disorders: Lennox–Gastaut syndrome and related developmental epileptic phenotypes

Epilepsia Open, EarlyView.
Abstract Objective Neurodevelopmental disorders (NDDs) and epilepsy are often associated. Increasing evidence highlights a pivotal role for pathogenic variants in genes encoding synaptic scaffolding proteins. Within this group, TANC2 has recently been implicated in intellectual developmental disorder with autistic features and language delay, with or ...
Lorenzo Perilli, Carlotta Stipa, Gianmichele Villano, Laura Licchetta, Leo Strothmann, Robin Tobias Jauss, Gerhard Josef Kluger, Raffaella Minardi, NETRE consortium, Giuseppe Gobbi, Salvatore Grosso, Francesca Bisulli, Pasquale Striano   +12 more
wiley   +1 more source

Role of the YWHAG gene mutations in Developmental and Epileptic Encephalopathy. [PDF]

Front Neurosci
Vilmont V, Nowakowski RS, Zhou Y.
europepmc   +1 more source