Weberhardy2592

Classical KD is of first choice in the treatment of GLUT1 deficiency. Earlier introduction of KD in GLUT1 promises a better outcome and a decrease in seizure frequency in these patients.

Patients with epilepsy experience frequent episodes of fragmented sleep which may contribute to chronic sleep loss. Enhancing sleep patterns might lead to improved quality of life in these patients. Currently, unlike some other antiepileptic drugs (AEDs), there are no data on the effects of clobazam, a novel AED on sleep. Therefore, we tested the hypothesis that patients with epilepsy will have longer, more consolidated sleep after treatment with clobazam.

In this prospective study, we included adults with drug-resistant epilepsy who were being considered for treatment with clobazam. Patients with known untreated moderate/severe sleep apnea or with major circadian rhythm disorders were excluded. We tested a set of the following subjective sleep measures Pittsburgh Sleep Quality Inventory (PSQI), Epworth Sleepiness Scale (ESS), Karolinska Sleepiness Scale (KSS), Insomnia Severity Index (ISI), and Quality of Life in Epilepsy (QOLIE) prior to starting the treatment, as well as after achieving a stable clobazmptoms and quality of life. After treatment, there were fewer awakenings as well as fewer seizures.The most common form of genetic generalized epilepsy (GGE) is juvenile myoclonic epilepsy (JME), which accounts for 5 to 10% of all epilepsy cases. The gene EFHC1 has been implicated as a putative cause of JME. However, it remains debatable whether testing for EFHC1 mutations should be included in the diagnostic epilepsy gene panels. To investigate the clinical utility of EFHC1 testing, we studied 125 individuals 100 with JME and 25 with other GGEs. We amplified and sequenced all EFHC1 coding exons. Then, we predicted the pathogenicity or benign impact of the variants using the analyses proposed by the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP). Mutation screening revealed 11 missense variants in 44 probands with JME (44%) and one of the seven individuals with generalized tonic-clonic seizures on awakening (14%). check details Six of the 11 variants (54%) were classified as 'benign,' and the remaining variants were considered variants of uncertain significance (VUS). There is currently a limitation to test for genes that predispose an individual to complex, nonmonogenic phenotypes. Thus, we show suggestive evidence that EFHC1 testing lacks a scientific foundation based on the disputed nature of the gene-disease relationship and should be currently limited to research purposes.

Data on the economic burden associated with tuberous sclerosis complex (TSC) among patients with epilepsy in the United States (US) are limited. This study aimed to assess all-cause and epilepsy-related healthcare resource utilization (HRU) and healthcare costs in the US among patients with epilepsy and TSC compared with patients with epilepsy but without TSC.

This retrospective study was conducted using the Symphony Health Solutions claims database (April 1, 2017-June 30, 2019). Patients with ≥1 medical claim with a diagnosis code representing epilepsy or seizures were assigned to the cohort with TSC if they had ≥1 medical claim for TSC; the remaining patients were assigned to the cohort without TSC. Patients in the cohort with TSC were exactly matched 15 on demographics to patients in the cohort without TSC. All-cause and epilepsy-related HRU, medical charges, prescription drug costs, and the use of antiepileptic drugs (AEDs) were compared between the matched cohorts over the 1-year study period.

A toedical service charges were numerically higher for patients with TSC, but the differences were not statistically significant (charge difference per patient $4293 for medical services, p = 0.707). Epilepsy-related costs were significantly higher for patients with TSC; the cost difference per patient was $14,639 for prescription costs (p < 0.001), and the charge difference per patient was $16,838 for medical charges (p = 0.019).

The results of this study underscore the high epilepsy-related HRU and costs incurred by patients with epilepsy and TSC relative to those incurred by patients with epilepsy but without TSC.

The results of this study underscore the high epilepsy-related HRU and costs incurred by patients with epilepsy and TSC relative to those incurred by patients with epilepsy but without TSC.

The objective of the study was to investigate the independent association between clinical, demographic, psychiatric, radiologic, electrophysiological, and pharmacologic variables and cognitive performance of Brazilian patients with pharmacoresistant mesial temporal lobe epilepsy (MTLE).

Ninety-three patients with pharmacoresistant MTLE related to hippocampal sclerosis (HS) were included in the study. Multiple linear regressions were done to identify predictor variables for 24 cognitive tests. Independent variables analyzed were sex, hand dominance, age, years of education, marital status, work activity, history for an initial precipitant injury (IPI), family history of epilepsy, lesion side, antiseizure medication (ASM) treatment type, ASM serum levels, benzodiazepine (BDZ) treatment, age at epilepsy onset, disease duration, monthly frequency of seizures, and Hospital Anxiety and Depression Scale (HADS) scores.

Years of education was an independent and positive predictor in 22 of the 24 cognitive teststient care.

When the SARS-CoV-2 pandemic reached Europe in 2020, a German governmental order forced clinics to immediately suspend elective care, causing a problem for patients with chronic illnesses such as epilepsy. Here, we report the experience of one clinic that converted its outpatient care from personal appointments to telemedicine services.

Documentations of telephone contacts and telemedicine consultations at the Epilepsy Center Frankfurt Rhine-Main were recorded in detail between March and May 2020 and analyzed for acceptance, feasibility, and satisfaction of the conversion from personal to telemedicine appointments from both patients' and medical professionals' perspectives.

Telephone contacts for 272 patients (mean age 38.7 years, range 17-79 years, 55.5% female) were analyzed. Patient-rated medical needs were either very urgent (6.6%, n = 18), urgent (23.5%, n = 64), less urgent (29.8%, n = 81), or nonurgent (39.3%, n = 107). Outpatient service cancelations resulted in a lack of understanding (9.6%, n = 26) or anger and aggression (2.