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Objective
Copy number variants (CNVs) contribute to genetic risk and genetic etiology of both rare and common epilepsies. Whereas many studies have explored the role of CNVs in sporadic or severe cases, fewer have been done in familial generalized and focal epilepsies.
Methods
We analyzed exome sequence data from 267 multiplex families and 859 first‐degree relative pairs with a diagnosis of genetic...
The objective of this study was to determine seizure control in women with epilepsy (WWE) undergoing assisted reproductive technology (ART). Through retrospective chart review, WWE undergoing ART were identified. Demographics and details regarding epilepsy type, seizure control, and ART procedures were extracted. Seizure frequency prior to and during ART were compared. We identified 12 WWE, who underwent...
Objective
There are limited data about the treatment and management of epilepsy with eyelid myoclonia (EEM). The objective of this study was to determine areas of consensus among an international panel of experts for the management of EEM (formerly known as Jeavons syndrome).
Methods
An international steering committee was convened of physicians and patients/caregivers with expertise in EEM. This...
Objective
Seizures are a common manifestation of paraneoplastic neurologic syndromes. The objective of this study was to describe the seizure characteristics and outcomes in patients with high‐risk paraneoplastic autoantibodies (>70% cancer association) and to determine factors associated with ongoing seizures.
Methods
Patients from 2000 to 2020 with seizures and high‐risk paraneoplastic autoantibodies...
Objective
The objective of this study was to determine areas of consensus among an international panel of experts for the clinical presentation and diagnosis of epilepsy with eyelid myoclonia (EEM; formerly known as Jeavons syndrome) to improve a timely diagnosis.
Methods
An international steering committee was convened of physicians and patients/caregivers with expertise in EEM. This committee...
The objective of this study was to describe serological association of musicogenic epilepsy and to evaluate clinical features and outcomes of seropositive cases. Through retrospective chart review, musicogenic epilepsy patients were identified. Among 16 musicogenic epilepsy patients, nine underwent autoantibody evaluations and all had high‐titer glutamic acid decarboxylase 65–immunoglobulin G (GAD65‐IgG;...
Objective
To evaluate the presence of tau deposition and pathologic features of chronic traumatic encephalopathy (CTE) in young adult patients treated with focal cortical resections for drug‐resistant epilepsy.
Methods
Sixty consecutive patients who had undergone surgical treatment for drug‐resistant focal epilepsy between 18 and 45 years of age were identified (2010‐2017). Medical records were...
Objective
Classification of epilepsy into types and subtypes is important for both clinical care and research into underlying disease mechanisms. A quantitative, data‐driven approach may augment traditional electroclinical classification and shed new light on existing classification frameworks.
Methods
We used latent class analysis, a statistical method that assigns subjects into groups called...
ObjectiveTo investigate whether the link between epilepsy and deprivation is due to factors associated with deprivation (social causation) or factors associated with a diagnosis of epilepsy (social drift).
MethodsWe reviewed electronic primary health care records from 2004 to 2010, identifying prevalent and incident cases of epilepsy and recording linked deprivation scores. Logistic and Poisson regression...
Purpose: This study was undertaken to determine the risk of developing posttraumatic epilepsy (PTE) within 3 years after discharge among a population‐based sample of older adolescents and adults hospitalized with traumatic brain injury (TBI) in South Carolina. It also identifies characteristics related to development of PTE within this population.
Methods: A stratified random sample of persons aged...
Purpose: To compare the cognitive profile of newly diagnosed untreated epilepsy patients with healthy volunteers using a comprehensive neuropsychological test battery.
Methods: A total of 155 untreated patients with newly diagnosed epilepsy, and no known brain pathology, were assessed before the start of treatment with antiepileptic medication. Their scores across the neuropsychological measures...
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