Results 61 to 70 of about 9,483 (241)

Intensive Induction in AML in the Era of Venetoclax: A Standing Count for “7 + 3”?

American Journal of Hematology, EarlyView.
Sudhir Tauro, Ayalew Tefferi
wiley   +1 more source

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

Epilepsia, EarlyView.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, Francesca Furia, Carmen Barba, Trine Bjørg‐Hammer, Ingo Borggraefe, Roberto Caraballo, Sebahattin Cirak, Alberto Espeche, Walid Fazeli, Renzo Guerrini, Matias Juanes, Karin Kassahn, Maria Kinali, Johannes Krämer, Judith Kröll, Maria Concepción Miranda Herrero, Renske Oegema, Katrin Ounap, Oscar Peñuela, Konrad Platzer, Asuri Narayan Prasad, Aurora Pujol, Karit Reinson, Alfonso Represa, Eugenia Roza, Gabriela Reyes Valenzuela, Agustí Rodríguez‐Palmero, Suzanne Sallevelt, Maria Iciar Sanchez‐Albiusa, Ingrid E. Scheffer, Cory Smid, Carl E. Stafstrom, Eva‐Lena Stattin, Jen R. Suarez, Steffen Syrbe, Kette D. Valente, Matias Wagner, Saskia Wortmann, Elena Gardella, Dennis Lal, Andreas Brunklaus, Rikke S. Møller   +43 more
wiley   +1 more source

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze, Robyn Whitney, Dorothée Ville, Nathalie Villeneuve, Anna‐Maria Hartmann, Lisa Becker, Jens Hausmann, Jinwei Zhang, Cathy Brier, Lucie I. Pisella, Perrine Friedel, Audrey Labalme, Eudeline Alix, Nicolas Chatron, Damien Sanlaville, Sylvie Gory‐Fauré, Eric Denarier, Christophe Porcher, Gaetan Lesca, Igor Medina   +19 more
wiley   +1 more source

A translational multimodal machine‐learning prototype predicting valproate response in epilepsy treatment

Epilepsia, EarlyView.
Abstract Objective Epilepsy affects ~1% of the global population and often requires lifelong antiseizure medication (ASM) therapy. Valproic acid (VPA) is a commonly prescribed first‐line ASM, yet only approximately half of patients achieve sustained seizure freedom. Treatment selection remains largely empirical.
Simeon Platte, Afsheen Kumar, Giorgia Guerini, Massimo Pandolfo, Denise Haslinger, Colin B. Josephson, Guillermo Delgado‐García, Navprabhjot Kaur, Michaela‐Pauline Lux, Heiko Stempfle, Chantal Depondt, Reetta Kälviäinen, Felix Rosenow, Sophie von Brauchitsch, Karl Martin Klein, Andreas G. Chiocchetti   +15 more
wiley   +1 more source

Long‐term prognosis of pharmacotherapy in newly diagnosed focal epilepsy patients and the predictive value of baseline seizure timing: A prospective cohort study

Epilepsia, EarlyView.
Abstract Objective Epilepsy is a highly heterogeneous neurological disorder with significant prognostic variability. Accurate long‐term outcome prediction remains a clinical challenge. We investigated pharmacotherapeutic prognosis and key predictors, particularly baseline seizure timing, to guide individualized treatment.
Lei Sun, Shouye Sun, Xinyue Zhang, Weihong Lin   +3 more
wiley   +1 more source

N. Paul Rosman, M.D. (1934–2026)

Annals of the Child Neurology Society, EarlyView.
Alcy Torres, Laurie Douglass, Phillip L. Pearl, Karl Kuban   +3 more
wiley   +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

NEUROPHYSIOLOGIC CORRELATES OF EPILEPSY IN COMPLEX FEBRILE SEIZURES

Praxis medica, 2009
<p>Febrile seizures are the most common neurological disorder of early childhood. By expressing the characteristics febrile seizures are divided into simple and complex. Our aim was to determine the elektroencephalography characteristics in children who had febrile seizures, and determine the relation between types of febrile seizures ...
A. Opačić, V. Ivetić
openaire   +1 more source

Timing is everything: The effect of early‐life seizures on developing neuronal circuits subserving spatial memory

Epilepsia Open, EarlyView.
Abstract Spatial memory, the aspect of memory involving encoding and retrieval of information regarding one's environment and spatial orientation, is a complex biological function incorporating multiple neuronal networks. Hippocampus‐dependent spatial memory is not innate and emerges during development in both humans and rodents.
Gregory L. Holmes
wiley   +1 more source

Febrile seizures: an overview

Drugs in Context, 2018
Background: Febrile seizures are the most common neurologic disorder in childhood. Physicians should be familiar with the proper evaluation and management of this common condition.
Alexander KC Leung, Kam Lun Hon, Theresa NH Leung   +2 more
doaj   +1 more source