Does the accumulated antiepileptic drug load in chronic epilepsy reflect disease severity?

Abstract

Objective

To ascertain factors that are related to the antiepileptic drug load in epilepsy.

Methods

In this cross‐sectional study, we analyzed a large cohort of conservatively treated patients with epilepsy (n = 1135) and a smaller homogeneous group of presurgical patients with neuropathologically confirmed unilateral hippocampal sclerosis (n = 91). Considered clinical variables comprised (1) presence of an underlying cerebral lesion, (2) onset and (3) duration of epilepsy, (4) seizure frequency, (5) generalized or focal to bilateral tonic‐clonic seizures, (6) ictal impairment of awareness, and (7) a ...

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Relationship between neural responses to stress and mental health symptoms in psychogenic nonepileptic seizures after traumatic brain injury

Abstract

Objective

To utilize traumatic brain injury (TBI) as a model for investigating functioning during acute stress experiences in psychogenic nonepileptic seizures (PNES) and to identify neural mechanisms underlying the link between changes in processing of stressful experiences and mental health symptoms in PNES.

Methods

We recruited 94 participants: 50 with TBI only (TBI‐only) and 44 with TBI and PNES (TBI + PNES). Participants completed mood (Beck Depression Inventory‐II), anxiety (Beck Anxiety Inventory), and posttraumatic stress disorder (PTSD) symptom (PTSD Checklist‐Specific Event) assessments before undergoing functional ...

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Transcriptome analysis of a ring chromosome 20 patient cohort

Abstract

Ring chromosomes occur when the ends of normally rod‐shaped chromosomes fuse. In ring chromosome 20 (ring 20), intellectual disability and epilepsy are usually present, even if there is no deleted coding material; the mechanism by which individuals with complete ring chromosomes develop seizures and other phenotypic abnormalities is not understood. We investigated altered gene transcription as a contributing factor by performing RNA‐sequencing (RNA‐seq) analysis on blood from seven patients with ring 20, and 11 first‐degree relatives (all parents). Geographic analysis ...

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Chromosome 14 deletions, rings, and epilepsy genes: A riddle wrapped in a mystery inside an enigma

Abstract

The ring 14 syndrome is a rare condition caused by the rearrangement of one chromosome 14 into a ring‐like structure. The formation of the ring requires two breakpoints and loss of material from the short and long arms of the chromosome. Like many other chromosome syndromes, it is characterized by multiple congenital anomalies and developmental delays. Typical of the condition are retinal anomalies and drug‐resistant epilepsy. These latter manifestations are not found in individuals who are carriers of comparable 14q ...

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Precision Medicine: Academic dreaming or clinical reality?

Abstract

Precision medicine can be distilled into a concept of accounting for an individual’s unique collection of clinical, physiologic, genetic, and sociodemographic characteristics to provide patient‐level predictions of disease course and response to therapy. Abundant evidence now allows us to determine how an average person with epilepsy will respond to specific medical and surgical treatments. This is useful, but not readily applicable to an individual patient. This has brought into sharp focus the desire for a more individualized approach through which ...

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Effects of lacosamide and carbamazepine on lipids in a randomized trial

Abstract

Objective

The effects of anticonvulsants on lipids are the subject of considerable concern and investigation, but there are almost no data on this issue from randomized trials. We evaluated serum lipid profiles in adults with newly diagnosed epilepsy, following randomization to lacosamide (LCM) or carbamazepine (CBZ) monotherapy.

Methods

We analyzed data from a Phase 3, international, randomized, double‐blind trial of LCM vs CBZ for the initial treatment of focal epilepsy. Serum lipid profiles in patients not taking lipid‐lowering agents and providing blood samples ...

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Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta‐analysis

Abstract

Objective

Clinical genetic sequencing is frequently utilized to diagnose individuals with neurodevelopmental disorders (NDDs). Here we perform a meta‐analysis and systematic review of the success rate (diagnostic yield) of clinical sequencing through next‐generation sequencing (NGS) across NDDs. We compare the genetic testing yield across NDD subtypes and sequencing technology.

Methods

We performed a systematic review of the PubMed literature until May 2020. We included clinical sequencing studies that utilized NGS in individuals with epilepsy, autism spectrum disorder (ASD), or intellectual disability (ID). Data ...

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Epilepsy with myoclonic‐atonic seizures (Doose syndrome): Clarification of diagnosis and treatment options through a large retrospective multicenter cohort

Abstract

Objective

Epilepsy with myoclonic‐atonic seizures (EMAS) is a rare childhood onset epileptic encephalopathy. There is no clear consensus for recommended treatments, and pharmacoresistance is common. To better assess the clinical phenotype, most effective treatment, and determinants of cognitive and seizure outcomes, three major pediatric epilepsy centers combined data, creating the largest cohort of patients with EMAS ever studied to date.

Methods

Authors performed a retrospective chart review of patients with EMAS who received care at the authors’ institutions.

Results

A total of 166 children were ...

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