atonic seizur adult

BACKGROUND/AIM: Kelch-like protein 11 (KLHL11)-antibody may be found in paraneoplastic neurological disorders presenting with epileptic seizures. The aim of this study was to investigate the prevalence and clinical significance of KLHL11-antibody in epilepsy. PATIENTS AND METHODS: Sera of 42 pediatric and 59 adult patients with seizures of undetermined cause were screened using a cell-based assay. RESULTS: KLHL11-antibody was found in three of 168 control patients with paraneoplastic neurological disorders and four pediatric patients (4-8-year-old, 2 boys/2 girls) with seizures of unknown cause presenting with myoclonic-atonic epilepsy, generalized epilepsy or childhood epilepsy with centrotemporal spikes...

OBJECTIVE: The goal of this systematic review and meta-analysis was to provide an updated analysis of studies investigating outcomes, morbidity, and mortality associated with MR-guided laser interstitial thermal therapy (MRgLITT) corpus callosum ablation (CCA). METHODS: Study inclusion criteria for screening required that studies report on human subjects only, including patients aged 1-52 years diagnosed with drug-resistant epilepsy who underwent CCA. Sixteen articles published between 2016 and 2023 were included for the systematic review and analysis, including 4 case reports, 11 case series, and 1 case-control study...

INTRODUCTION: SLC6A1 is one of the most common monogenic causes of epilepsy and is a well-established cause of neurodevelopmental disorders. SLC6A1 -neurodevelopmental disorders have a consistent phenotype of mild to severe intellectual disability (ID), epilepsy, language delay and behavioral disorders. This phenotypic description is mainly based on knowledge from the pediatric population. METHOD: Here, we sought to describe patients with SLC6A1 variants and age above 18 years through the ascertainment of published and unpublished patients...

This study evaluated sleep and respiratory abnormalities, and their relationship with seizures, in adults with developmental and epileptic encephalopathies (DEEs). We studied consecutive adults with DEEs undergoing inpatient video-EEG monitoring and concurrent polysomnography between December 2011 and July 2022. Thirteen patients with DEEs were included (median age: 31 years, range: 20-50; 69.2% female): Lennox-Gastaut syndrome (n = 6), Lennox-Gastaut syndrome-like phenotype (n = 2), Landau-Kleffner syndrome (n = 1), epilepsy with myoclonic-atonic seizures (n = 1), and unclassified DEEs (n = 3)...

Callosotomy is widely used today as a treatment option for medically refractory epilepsy in patients with generalized or unknown-onset seizures. Other surgical indications include bilaterally distributed, most often synchronous, epileptiform discharges on EEG and some epilepsy syndromes, including Lennox-Gastaut syndrome and infantile spasms/West syndrome. Patients with drop attacks, mainly caused by epileptic spasms or atonic seizures, are most likely to benefit from this procedure. A more favorable seizure outcome was observed after a one-stage total callosal section in pediatric patients...

INTRODUCTION: Diagnostic exome sequencing has yielded over the past decades a great number of molecular diagnoses for genetic disorders in which both intellectual disability and epilepsy are present. One of these syndromes is myoclonic-atonic epilepsy (MAE) that is caused by pathogenic variants in the SLC6A1 gene located at 3p25.3. The most relevant clinical characteristics are intellectual disability, several forms of mostly treatment-resistant epilepsy starting at young age, serious disinhibitory behavioural problems, language impairment, higher pain tolerance, and symptoms from the autism spectrum, all in the absence of any consistent dysmorphism or malformation...

A 20-year-old female with refractory perinatal postischemic catastrophic epilepsy and frequent daily generalized atonic, tonic, tonic-clonic and focal seizures was hospitalized in the progressive phase of illness. The diagnosis was confirmed by semiology, interictal electroencephalogram (EEG), long-term video EEG monitoring, and brain magnetic resonance imaging. Repeated interictal EEG findings showed generalized spike and slow wave complexes with a 2-3 Hz frequency. Interictal EEG showed evidence of electroclinical epileptic status on several occasions...

ATP6V1B2 pathogenic variants are linked with variable phenotypes, such as dominant deafness-onychodystrophy syndrome (DDOD), autosomal dominant Zimmermann-Laband syndrome type 2 (ZLS2), and some cases of DOORS (deafness, onychodystrophy, osteodystrophy, intellectual disability [ID], and seizures). Epilepsy was first linked to ATP6V1B2, when the p.(Glu374Gln) missense variant was detected in a patient with ID and seizures, but without characteristic features of DDOD or ZLS2 syndromes. We herein report a novel pathogenic ATP6V1B2:p...

BACKGROUND: Alexander disease (AxD) is classified into AxD type I (infantile) and AxD type II (juvenile and adult form). We aimed to determine the potential genetic cause(s) contributing to the AxD type II manifestations in a 9-year-old male who presented area postrema-like syndrome and his vomiting and weight loss improved after taking prednisolone. CASE PRESENTATION: A normal cognitive 9-year-old boy with persistent nausea, vomiting, and a significant weight loss at the age of 6 years was noticed...

BACKGROUND: Lennox-Gastaut syndrome (LGS) is a developmental and epileptic encephalopathy with the first symptoms usually appearing during early childhood. Due to the highly variable underlying etiologies, LGS cannot be considered as one disease but as an electro-clinical entity, often challenging to diagnose early and treat accordingly. The anti-seizure medication, rufinamide, is indicated for the adjunctive treatment of patients with LGS aged ≥1 year. This post hoc analysis assessed the safety and efficacy of adjunctive rufinamide for total and tonic-atonic seizures during Study 022 in children (aged <16 years) and adults (aged ≥16 years)...

Atonic seizures are typically observed in younger children with Lennox-Gastaut syndrome and have been rarely described in adults. Herein we present a case of the adolescent-onset drug-resistant focal epilepsy in a 31-year-old woman with focal atonic seizures originating in the left posterior temporoparietal area and manifesting without aura with abrupt impairment of consciousness and slow falling down. According to the video-EEG monitoring, the seizure began with the medium amplitude spikes principally at T5 area evolving onto the left centroparietal area, which was immediately followed by the diffuse suppression of the background EEG activity...

OBJECTIVE: Several small series have described stereotactic MRI-guided laser interstitial thermal therapy for partial callosotomy of astatic and generalized tonic-clonic (GTC) seizures, especially in association with Lennox-Gastaut syndrome. Larger case series and comparison of distinct stereotactic methods for stereotactic laser corpus callosotomy (SLCC), however, are currently lacking. The objective of this study was to report seizure outcomes in a series of adult patients with epilepsy following anterior, posterior, and complete SLCC procedures and to compare the results achieved with a frameless stereotactic surgical robot versus direct MRI guidance frames...

BACKGROUND: Stereotactic radiosurgery (SRS) offers a noninvasive technique for division of the corpus callosum, which can confer improved seizure control to patients suffering from frequent atonic seizures due to rapid interhemispheric generalization. This noninvasive approach is well-suited for use in a palliative intervention for improved seizure control in this patient population. To our knowledge, this is the first report of radiosurgical completion corpus callosotomy in an adult in the United States...

Introduction Epilepsy is a burdensome disorder for affected individuals and community. There is limited data available on the epidemiological aspects of seizures in Pakistan and further research is necessary. We aimed to fill this gap by studying this information in epilepsy patients presenting to our neurology department. The purpose of this study is to evaluate the causes and types of seizures among the target population. Method This is a cross-sectional study conducted at the Department of Neurology, Dr...

PURPOSE/AIM OF THE STUDY: Subacute sclerosing panencephalitis (SSPE) is a degenerative disease of the brain caused by a persistent measles virus infection occurring mostly in childhood or early adolescence. The spectrum of epileptic phenomena associated with SSPE is wide, varying from partial or generalized tonic-clonic seizures and atypical absences to myoclonic-atonic attacks. Tonic seizures are very rare in SSPE. MATERIALS AND METHODS: Herein, we discuss a case of 25 years old male that presented with adult-onset SSPE with tonic seizures accompanying myoclonic seizures...

BACKGROUND: Dravet syndrome is a rare, treatment-resistant developmental epileptic encephalopathy characterised by multiple types of frequent, disabling seizures. Fenfluramine has been reported to have antiseizure activity in observational studies of photosensitive epilepsy and Dravet syndrome. The aim of the present study was to assess the efficacy and safety of fenfluramine in patients with Dravet syndrome. METHODS: In this randomised, double-blind, placebo-controlled clinical trial, we enrolled children and young adults with Dravet syndrome...

INTRODUCTION: Clinical manifestations of the hypothalamic hamartoma-epilepsy syndrome (HH-ES) in adulthood are variable. Efficacy of therapeutic options and outcome are diverse. METHODS: Retrospective study of adult patients diagnosed with a HH in magnetic resonance imaging and epilepsy who attended our tertiary Epilepsy Unit between 2003 and 2018. We report the clinical and electroencephalographic features of a series of adult patients with HH and related epilepsy seen in our center together with the treatments and seizure outcome...

Pathogenic loss-of-function variants in SCN1B are linked to Dravet syndrome (DS). Previous work suggested that neuronal pathfinding defects underlie epileptogenesis and SUDEP in the Scn1b null mouse model of DS. We tested this hypothesis by inducing Scn1b deletion in adult mice that had developed normally. Epilepsy and SUDEP, which occur by postnatal day 21 in Scn1b null animals, were observed within 20 days of induced Scn1b deletion in adult mice, suggesting that epileptogenesis in SCN1B -DS does not result from defective brain development...

Background: We describe the clinical features and outcome in patients with late-onset Lennox-Gastaut syndrome (LGS). Methods: Adult patients evaluated between January 1, 2000, and March 1, 2017, who presented with onset of LGS ≥10 years were identified. Data abstracted included age at seizure onset, seizure types, etiology, treatments, EEG and neuroimaging results, cerebrospinal fluid (CSF) findings, and autoimmune evaluation. Results: Ten patients (8 females) were identified...

OBJECTIVE: The goal of this study was to assess the indications of revision for vagal nerve stimulation at a single institution in an adult population with drug-resistant epilepsy. METHODS: This was a retrospective review of a prospectively collected database who underwent vagal nerve stimulator implantation for drug-resistant epilepsy during 1992-2017. Patients receiving vagal nerve stimulation (VNS) implants were monitored throughout their perioperative and postoperative course and were classified according to type of seizure at the time of diagnosis and indications for VNS revision...