Results 61 to 70 of about 8,895 (193)
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 +43 more
wiley +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
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 +4 more
wiley +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 seizures: Advances in diagnosis and management
Epilepsia Open, EarlyView.Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz +2 more
wiley +1 more source
Epilepsia Open, EarlyView.Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira +5 more
wiley +1 more source
Epilepsia Open, EarlyView.Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris +4 more
wiley +1 more source
A price check on the ketogenic diet for adults with epilepsy in Australia
Epilepsia Open, EarlyView.Abstract Objective The ketogenic diet is an established and effective treatment for drug‐resistant epilepsy and is an emerging therapy for other conditions. Affordability of therapeutic ketogenic diets for epilepsy has not been well studied. This study aimed to compare weekly cost of ketogenic diets with national dietary guidelines and a typical ...
Lillian King +6 more
wiley +1 more source
Head &Neck, EarlyView.ABSTRACT Background Low‐flow vascular malformations (LFVMs) of the head and neck, including venous and lymphatic malformations, represent a heterogeneous group of congenital anomalies frequently requiring intervention due to functional and esthetic impairment.
Riccardo Nocini +6 more
wiley +1 more source
Ibrain, EarlyView.Among 568 mechanical heart valve replacement patients in Bangladesh, hemorrhagic stroke occurred in 4.4% with 52% mortality. Severe pulmonary hypertension increased risk 4.4‐fold, and warfarin therapy ≥104 months nearly doubled the risk, highlighting the need for long‐term risk monitoring in anticoagulated valve patients.
Dipannita Adhikary +10 more
wiley +1 more source