Precision therapies for genetic epilepsies in 2025: Promises and pitfalls
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 +3 more
wiley +1 more source
Identification of a Novel Homozygous SCN1B Splice-Site Variant in a Consanguineous Families With Early-Onset Epilepsy: A Case Series and Review of Literature. [PDF]
Muhammad A +13 more
europepmc +1 more source
Absence seizures: Update on signaling mechanisms and networks
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
Fenfluramine in SCN1A-related GEFS+: A multicenter observational study on efficacy, EEG improvement, and tolerability. [PDF]
Dell'Isola GB +12 more
europepmc +1 more source
Neonatal seizures: Advances in diagnosis and management
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
First seizure in adolescence revealing hidden bilateral porencephalic cysts. [PDF]
Al Hariri B +7 more
europepmc +1 more source
Detection of focal impaired awareness seizures using a biometric shirt
Abstract Objective In recent years, seizure detection using wearable technology has gained significant attention in research. Most studies, however, have focused on detecting generalized or focal to bilateral tonic–clonic seizures. This study evaluates the feasibility of using a biometric shirt to detect focal impaired awareness seizures (FIAS) by ...
Jérôme St‐Jean +6 more
wiley +1 more source
Seizure as a Rare Initial Manifestation of Empty Sella Turcica Associated With Idiopathic Intracranial Hypertension: A Case Report. [PDF]
Lakhdar K +6 more
europepmc +1 more source
Epileptic drop attacks: More than just atonic seizures
Abstract “Drop attacks” are not officially defined by the International League Against Epilepsy. Seizures are characterized by a sudden loss of control over the trunk and posture, leading to falls and injuries, and resolving within a few seconds. Accurately diagnosing the type of seizure is usually difficult due to limitations in clinical documentation
Tomonori Ono +3 more
wiley +1 more source

