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Genetic Testing in Adult Patients With Epilepsy: Genetic Risk Index for Seizure Etiology for Identifying Optimal Candidates -
BACKGROUND AND OBJECTIVES: Although genetic testing is recommended as a standard component of the diagnostic evaluation for epilepsies with unknown etiology, its optimal application in adult populations remains poorly defined. The aim of this study was to assess the diagnostic yield of genetic testing in adult patients with epilepsy, identify associated risk factors, and develop a clinical scor...
Loss of Function of AFG3L2 Leading to Developmental and Epileptic Encephalopathy -
AIM: To delineate the clinical features of AFG3L2-related developmental and epileptic encephalopathy (DEE) and explore its pathogenic mechanisms.
Epileptogenic lesions in the Australian epilepsy project: A harmonized 3-T magnetic resonance imaging protocol and its diagnostic yield -
OBJECTIVE: Detection of epilepsy-causing structural brain lesions on magnetic resonance imaging (MRI) is critical for diagnosis, prognosis, and treatment planning in people with epilepsy. We aimed to establish an epilepsy-directed multisite harmonized 3-T MRI acquisition protocol for the Australian Epilepsy Project (AEP) and describe the clinical structural brain findings in the initial partici...
Risk Factors for White Matter Lesion Burden in Adults with Focal Epilepsy -
CONCLUSION: WMH are common in adults with focal epilepsy, and the frontal lobe is the most frequently affected region. Age, interictal epileptiform discharges, and seizure duration are independent risk factors for greater WMH burden. WMH may serve as an imaging marker for clinical seizure severity.
Antiseizure Medications Impact Mitochondrial Ion Channels via Novel Bioenergetic and Neural Mechanisms -
Antiseizure medications (ASMs) have traditionally been characterized by their modulation of neuronal ion channels and synaptic processes; however, accumulating evidence indicates that numerous ASMs also directly modulate mitochondrial function. Specifically, several ASMs interact with ion channels located in both the inner and outer mitochondrial membranes, including the voltage-dependent anion...
Shoulder instability and associated shoulder injuries in patients with epilepsy -
CONCLUSION: In patients with epilepsy, shoulder dislocations predominantly occur during generalized seizures, with anteroinferior dislocations being the most frequent, while posterior dislocations are significantly more prevalent compared to the general population. Recurrent dislocations were associated with significantly larger humeral and posterior glenoid defects, indicating progressive bone...
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