Results 221 to 230 of about 300,881 (312)

Base editing rescues seizures and sudden death in a SCN8A mutation-associated developmental epileptic encephalopathy model. [PDF]

J Clin Invest
Reever CM, Boscia AR, Deutsch TC, Patel MP, Miralles RM, Kittur S, Fleischel EJ, Buo AM, Yorek MS, Meisler MH, Farber CR, Patel MK.   +11 more
europepmc   +1 more source

Compensatory rearrangement of parvalbumin interneuron voltage‐gated sodium channel subunits in a mouse model of Dravet syndrome

Epilepsia, EarlyView.
Abstract Heterozygous loss‐of‐function variants in the gene SCN1A, which encodes the voltage‐gated sodium channel (VGSC) pore‐forming (α) subunit NaV1.1, lead to a spectrum of neurological disease, including Dravet syndrome. NaV1.1 is prominently expressed at the proximal portion of the axon initial segment (AIS) of fast‐spiking γ‐aminobutyric ...
Ania K. Dabrowski, Ala Somarowthu, Sophie R. Liebergall, Damaris N. Lorenzo, Ethan M. Goldberg   +4 more
wiley   +1 more source

Sudden cardiac death

Forensic Sciences Research, 2019
Joaquín S. Lucena
doaj   +1 more source

Arrhythmias and Sudden Death: What is New in Hypertrophic Cardiomyopathy? [PDF]

Card Fail Rev
Rajan D, Zörner CR, Hansen ML, Tfelt-Hansen J.   +3 more
europepmc   +1 more source

Sudden Death Caused by Bilateral Diaphragmatic Eventration in Myotonic Dystrophy Type 1. [PDF]

Am J Forensic Med Pathol
Wu S, Prahlow JA.
europepmc   +1 more source

Gamma suppression correlates with thalamic stimulation therapeutic response in intractable epilepsy

Epilepsia, EarlyView.
Abstract Objective In patients with drug‐resistant epilepsy who undergo anterior nucleus of the thalamus (ANT) deep brain stimulation (DBS), efficacy is assessed months after therapy initiation and clinicians have no guidance when choosing stimulation parameters due to the lack of real‐time biomarkers.
Zachary T. Sanger, Xinbing Zhang, Thomas Lisko, Hafsa Farooqi, Steffen Ventz, Sandipan Pati, Thomas R. Henry, David P. Darrow, Michael C. Park, Theoden I. Netoff, Robert A. McGovern   +10 more
wiley   +1 more source

Sudden death in the emergency department: A comprehensive 8-year study integrating clinical and autopsy data. [PDF]

Turk J Emerg Med
Akdemir T, Az A, Doğan Y, Doğan Y, Akdemir E.   +4 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

Dose- and genotype-dependent cardiac arrhythmia and sudden death in rats following microdystrophin gene therapy. [PDF]

Mol Ther
Le Guiner C, Toumaniantz G, Larcher T, Marchand S, Buscara L, Cedrone G, Moreira CV, Lancelot A, Georger C, Lafoux A, Couzinié C, Augereau D, Jounier C, Hivonnait A, Creoff E, Blaie S, Huchet C, Adjali O, Daniele N, Perret G, Braun S.   +20 more
europepmc   +1 more source

SUDEP and mortality in developmental and epileptic encephalopathies: A meta‐analysis of randomized clinical trials and extension studies

Epilepsia, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are associated with high premature mortality and increased risk of sudden unexpected death in epilepsy (SUDEP). However, epidemiological data remain limited, particularly for specific syndromes such as Dravet syndrome (DS), Lennox–Gastaut syndrome (LGS), and infantile epileptic ...
Pierludovico Moro, Maria Sole Borioni, Adolfo Mazzeo, Enrico Cocchi, Carlo Di Bonaventura, Emanuele Cerulli Irelli   +5 more
wiley   +1 more source