Results 151 to 160 of about 15,708 (241)

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

<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

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

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

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

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

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Developmental and Epileptic Encephalopathy Due to a Novel <i>ARHGEF9</i> Deletion Variant: Case Series of Two Siblings. [PDF]

Rev Neurol
Li J, Han G, Wei Y.
europepmc   +1 more source

Absence seizures: Update on signaling mechanisms and networks

Epilepsia Open, EarlyView.
Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley   +1 more source

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies. [PDF]

Epilepsia
Gverdtsiteli S, Ortiz S, Brünger T, Furia F, Barba C, Bjørg-Hammer T, Borggraefe I, Caraballo R, Cirak S, Espeche A, Fazeli W, Guerrini R, Juanes M, Kassahn K, Kinali M, Krämer J, Kröll J, Herrero MCM, Oegema R, Ounap K, Peñuela O, Platzer K, Prasad AN, Pujol A, Reinson K, Represa A, Roza E, Valenzuela GR, Rodríguez-Palmero A, Sallevelt S, Sanchez-Albiusa MI, Scheffer IE, Smid C, Stafstrom CE, Stattin EL, Suarez JR, Syrbe S, Valente KD, Wagner M, Wortmann S, Gardella E, Lal D, Brunklaus A, Møller RS.   +43 more
europepmc   +1 more source