Results 211 to 220 of about 186,958 (312)
Abstract Objective Epilepsy is a prevalent chronic neurological disorder characterized by abnormal neuronal electrical activity. The primary treatment modality for individuals with epilepsy (PWE) is antiseizure medication (ASM). The multiple potential factors contributing to treatment resistance in epilepsy may be attributed to the inability of ASMs to
Priya Kannan Varshini +9 more
wiley +1 more source
Computational Short Tandem Repeat Genotyping Reveals Clinically Relevant Expansions in a Large Turkish Neurodegeneration Disease Cohort. [PDF]
Khojakulov Z +14 more
europepmc +1 more source
Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
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 +3 more
wiley +1 more source
Rehabilitation and Recovery in a Patient With Cerebellar Atrophy and Ataxia Following Femoral Fracture: A Case Report. [PDF]
Gholipour M, Mohammaditabar M, Abbasi F.
europepmc +1 more source
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
Frontal ataxia: a frequent but underrecognized disorder in the spectrum of ataxias. [PDF]
Cassarotti B +5 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
Electrophysiological features and outcomes of post-infectious myoclonus-ataxia syndrome: a case report and literature review. [PDF]
Wang RY, Zheng Y, Ge Y, Xu YF, Ding Y.
europepmc +1 more source
Abstract Objective Individuals with Down syndrome (DS) face an ultra‐high risk of Alzheimer's disease (AD). Within this continuum, Progressive Myoclonus Epilepsy (PME) has emerged as a marker of advanced neurodegeneration. Building on our 2014 characterization of this syndrome, we aimed to define its long‐term natural history and pathological substrate.
Giuseppe d'Orsi +6 more
wiley +1 more source

