Epilepsia. Official Journal of the International League Against Epilepsy

Abstract

The study assessed the clinical response to add‐on brivaracetam (BRV) in real‐world practice by means of time‐to‐baseline seizure count methodology. Patients with focal epilepsy who were prescribed add‐on BRV were identified. Primary endpoint was the time‐to‐baseline seizure count defined as the number of days until each patient experienced the number of focal seizures that occurred in the 90 days before BRV initiation. Subgroup analysis was performed according to levetiracetam (LEV) status (naive vs prior use). Three‐hundred eighty‐seven patients were included. The ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...