Results 171 to 180 of about 118,836 (248)

The importance of genetic testing in managing developmental epileptic encephalopathy in resource-limited settings: a case report. [PDF]

J Med Case Rep
Pathiraja H, Wanasinghe A, Hewavitharana H, Abeyratna B, Ratnayake P.   +4 more
europepmc   +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

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2-developmental and epileptic encephalopathy. [PDF]

Epilepsia
Hamze M, Whitney R, Ville D, Villeneuve N, Hartmann AM, Becker L, Hausmann J, Zhang J, Brier C, Pisella LI, Friedel P, Labalme A, Alix E, Chatron N, Sanlaville D, Gory-Fauré S, Denarier E, Porcher C, Lesca G, Medina I.   +19 more
europepmc   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

Impaired gephyrin G-domain trimerization and phase separation in a patient with developmental epileptic encephalopathy. [PDF]

EMBO Mol Med
Bruckisch EHW, de Melo Aragão M, Dos Santos Rohde T, Huber AK, de Oliveira Torres M, Schwarz G, Liebsch F.   +6 more
europepmc   +1 more source

Intestinal microbiome alterations in pediatric epilepsy: Implications for seizures and therapeutic approaches

Epilepsia Open, EarlyView.
Abstract The intestinal microbiome plays a pivotal role in maintaining host health through its involvement in gastrointestinal, immune, and central nervous system (CNS) functions. Recent evidence underscores the bidirectional communication between the microbiota, the gut, and the brain and the impact of this axis on neurological diseases, including ...
Teresa Ravizza, Greta Volpedo, Antonella Riva, Pasquale Striano, Annamaria Vezzani   +4 more
wiley   +1 more source

<i>NSF</i> gene variants cause developmental and epileptic encephalopathy 96: expanding genotype and phenotypic spectrum with prenatal-onset features. [PDF]

Front Genet
Yang Q, Qin Z, Li J, Zhang Q, Zhou X, Yi S, Zhang S, Lu W, Yi S, He S, Luo J.   +10 more
europepmc   +1 more source

Reply to: Does the generalized paroxysmal fast activity‐underrepresented cluster represent Lennox–Gastaut syndrome or other severe developmental and epileptic encephalopathies?

Epilepsia, EarlyView.
Emanuele Cerulli Irelli, Marco Perulli, Maria S. Borioni, Adolfo Mazzeo, Carlo Di Bonaventura, Domenica I. Battaglia   +5 more
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

4-Phenylbutyrate Plus Wildtype GAT-1 Augmentation: A Dual Therapy to Rescue SLC6A1 Variant-Associated Developmental and Epileptic Encephalopathy. [PDF]

Genes (Basel)
Delahanty AJ, James K, Carter EG, Song ZD, Wang J, Bassette M, Kang JQ.   +6 more
europepmc   +1 more source