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Fulltext PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy

Shiraku H, Nakashima M, Takeshita S, Khoo CS, Haniffa M, Ch'ng GS, et al.

Epilepsia Open, 2018 Dec;3(4):495-502.
PMID: 30525118 DOI: 10.1002/epi4.12272

Objective: Vitamin B6-dependent epilepsies are treatable disorders caused by variants in several genes, such as ALDH7A1,PNPO, and others. Recently, biallelic variants in PLPBP, formerly known as PROSC, were identified as a novel cause of vitamin B6-dependent epilepsies. Our objective was to further delineate the phenotype of PLPBP mutation.
Methods: We identified 4 unrelated patients harboring a total of 4 variants in PLPBP, including 3 novel variants, in a cohort of 700 patients with developmental and epileptic encephalopathies. Clinical information in each case was collected.
Results: Each patient had a different clinical course of epilepsy, with seizure onset from the first day of life to 3 months of age. Generalized tonic-clonic seizures were commonly noted. Myoclonic seizures or focal seizures were also observed in 2 patients. Interictal electroencephalography showed variable findings, such as suppression burst, focal or multifocal discharges, and diffuse slow activity. Unlike previous reports, all the patients had some degree of intellectual disability, although some of them had received early treatment with vitamin B6, suggesting that different mutation types influence the severity and outcome of the seizures.
Significance: PLPBP variants should be regarded as among the causative genes of developmental and epileptic encephalopathy, even when it occurs after the neonatal period. Early diagnosis and proper treatment with pyridoxine or pyridoxal phosphate is essential to improve the neurologic prognosis in neonates or young children with poorly controlled seizures.
Fulltext EpiNet as a way of involving more physicians and patients in epilepsy research: Validation study and accreditation process

Bergin PS, Beghi E, Sadleir LG, Brockington A, Tripathi M, Richardson MP, et al.

Epilepsia Open, 2017 Mar;2(1):20-31.
PMID: 29750210 DOI: 10.1002/epi4.12033

Objective: EpiNet was established to encourage epilepsy research. EpiNet is used for multicenter cohort studies and investigator-led trials. Physicians must be accredited to recruit patients into trials. Here, we describe the accreditation process for the EpiNet-First trials.

Methods: Physicians with an interest in epilepsy were invited to assess 30 case scenarios to determine the following: whether patients have epilepsy; the nature of the seizures (generalized, focal); and the etiology. Information was presented in two steps for 23 cases. The EpiNet steering committee determined that 21 cases had epilepsy. The steering committee determined by consensus which responses were acceptable for each case. We chose a subset of 18 cases to accredit investigators for the EpiNet-First trials. We initially focused on 12 cases; to be accredited, investigators could not diagnose epilepsy in any case that the steering committee determined did not have epilepsy. If investigators were not accredited after assessing 12 cases, 6 further cases were considered. When assessing the 18 cases, investigators could be accredited if they diagnosed one of six nonepilepsy patients as having possible epilepsy but could make no other false-positive errors and could make only one error regarding seizure classification.

Results: Between December 2013 and December 2014, 189 physicians assessed the 30 cases. Agreement with the steering committee regarding the diagnosis at step 1 ranged from 47% to 100%, and improved when information regarding tests was provided at step 2. One hundred five of the 189 physicians (55%) were accredited for the EpiNet-First trials. The kappa value for diagnosis of epilepsy across all 30 cases for accredited physicians was 0.70.

Significance: We have established criteria for accrediting physicians using EpiNet. New investigators can be accredited by assessing 18 case scenarios. We encourage physicians with an interest in epilepsy to become EpiNet-accredited and to participate in these investigator-led clinical trials.
Fulltext Epilepsy surgery program in a resource-limited setting in Vietnam: A multicentered collaborative model

Le VT, Thuy Le MA, Nguyen DH, Tang LNP, Pham TA, Nguyen AM, et al.

Epilepsia Open, 2022 Dec;7(4):710-717.
PMID: 36136063 DOI: 10.1002/epi4.12650

OBJECTIVE: Although epilepsy surgery is more effective than medical therapy for drug-resistant patients, it is underutilized in both high-income and low- and middle-income countries. In light of our efforts to establish an epilepsy surgery program in a resource-limited setting, this study aimed to determine the outcome of the epilepsy surgery program in Ho Chi Minh City (HCMC), Vietnam.
METHODS: In 2018, we developed the HCMC epilepsy core multidisciplinary team with members from various hospitals and centers. The team typically included neurologists, neurosurgeons, neuropsychologists, psychiatrists, and nursing specialists. Presurgical evaluations were performed for patients with drug-resistant epilepsy, fulfilling the ILAE criteria, with an epileptogenic lesion (mesial temporal sclerosis, low-grade gliomas, or focal cortical dysplasia). All epilepsy surgeries were performed in two epilepsy surgery centers in HCMC between 2018 and 2021. The patients were followed up for at least 12 months.
RESULTS: Fifty-two patients with drug-resistant epilepsy underwent presurgical evaluation, of which 35 underwent surgery. Among the 52 patients, 20 (38.5%) underwent surgery after showing concordance among the results of standard presurgical assessments such as semiology, scalp interictal or ictal electroencephalography, and brain imaging. Among the 26 people with epilepsy who required more advanced evaluations, 15 underwent surgery with intraoperative electrocorticography to delineate the optimal resection borders. The outcomes of Engel Class I and Class II were achieved in 29/35 (82.8%) and 6/35 (17.2%) patients, respectively.
SIGNIFICANCE: The epilepsy surgery program with a multicentered collaborative model in a resource-limited setting showed favorable outcomes in HCMC, Vietnam.
Fulltext Safety and adverse events following COVID-19 vaccination among people with epilepsy: A cross-sectional study

Ong MJY, Khoo CS, Lee YX, Poongkuntran V, Tang CK, Choong YJ, et al.

Epilepsia Open, 2023 Mar;8(1):60-76.
PMID: 36214033 DOI: 10.1002/epi4.12658

OBJECTIVE: Epilepsy is a non-communicable disease costing a massive burden globally. It is known that there is increased prevalence of morbidity and mortality following COVID-19 infection among people with epilepsy (PWE). However, there is limited information about the adverse events following COVID-19 immunization among PWE. Hence, this study aimed to assess the safety and adverse events following immunization (AEFI) of various COVID-19 vaccines among PWE from our centre, focusing on neurological AEFI.
METHODS: This cross-sectional study recruited 120 adult PWE from the Neurology Clinic of the Universiti Kebangsaan Malaysia Medical Centre (UKMMC). Consent-taking was conducted via synchronous or asynchronous approaches, followed by a phone call interview session. The interview collected socio-demographic information, epilepsy-related variables, and vaccination-related variables. Univariate analysis and multiple logistic regression analysis were done to confirm factors associated with the AEFI of COVID-19 vaccination.
RESULTS: Among all types of COVID-19 vaccines, most of the PWE received the Cominarty® COVID-19 vaccination (52.5%). Overall, local AEFI was the quickest to develop, with an average onset within a day. PWE with normal body mass index (BMI) had a higher risk of developing both local and systemic AEFI compared to those underweight and obese PWE (OR: 15.09, 95% CI 1.70-134.28, P = 0.02).
SIGNIFICANCE: COVID-19 vaccines are safe for PWE. AEFI among PWE are similar to those of the general population following COVID-19 vaccination. Therefore, clinicians should encourage PWE to take COVID-19 vaccines.
Fulltext Response: Safety and adverse events following COVID-19 vaccination among people with epilepsy: Correspondence

Ong MJY, Khoo CS, Lee YX, Poongkuntran V, Tang CK, Choong YJ, et al.

Epilepsia Open, 2023 Mar;8(1):236.
PMID: 36504315 DOI: 10.1002/epi4.12675
Efficacy, safety, and tolerability of adjunctive brivaracetam in adult Asian patients with uncontrolled focal-onset seizures: A phase III randomized, double-blind, placebo-controlled trial

Inoue Y, Tiamkao S, Zhou D, Cabral-Lim L, Lim KS, Lim SH, et al.

Epilepsia Open, 2024 Apr 04.
PMID: 38576178 DOI: 10.1002/epi4.12929

OBJECTIVE: Evaluate efficacy, safety, and tolerability of adjunctive brivaracetam (BRV) in adult Asian patients with focal-onset seizures (FOS).
METHODS: Phase III, randomized, double-blind, placebo-controlled study (EP0083; NCT03083665) evaluating BRV 50 mg/day and 200 mg/day in patients (≥16-80 years) with FOS with/without secondary generalization (focal to bilateral tonic-clonic seizures) despite current treatment with 1 or 2 concomitant antiseizure medications. Following an 8-week baseline, patients were randomized 1:1:1 to placebo, BRV 50 mg/day, or BRV 200 mg/day, and entered a 12-week treatment period. Efficacy outcomes: percent reduction over placebo in 28-day FOS frequency (primary); 50% responder rate in FOS frequency; median percent reduction in FOS frequency from baseline; seizure freedom during treatment period (secondary). Primary safety endpoints: incidences of treatment-emergent adverse events (TEAEs); TEAEs leading to discontinuation; serious TEAEs.
RESULTS: In this study, 448/449 randomized patients (mean age, 34.5 years; 53.8% female) received ≥1 dose of study medication (placebo/BRV 50 mg/BRV 200 mg/day: n = 149/151/148). Percent reduction over placebo in 28-day adjusted FOS frequency was 24.5% (p = 0.0005) and 33.4% (p
Fulltext Feasibility of cardiac-based seizure detection and prediction: A systematic review of non-invasive wearable sensor-based studies

Seth EA, Watterson J, Xie J, Arulsamy A, Md Yusof HH, Ngadimon IW, et al.

Epilepsia Open, 2024 Feb;9(1):41-59.
PMID: 37881157 DOI: 10.1002/epi4.12854

A reliable seizure detection or prediction device can potentially reduce the morbidity and mortality associated with epileptic seizures. Previous findings indicating alterations in cardiac activity during seizures suggest the usefulness of cardiac parameters for seizure detection or prediction. This study aims to examine available studies on seizure detection and prediction based on cardiac parameters using non-invasive wearable devices. The Embase, PubMed, and Scopus databases were used to systematically search according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines. Human studies that evaluated seizure detection or prediction based on cardiac parameters collected using wearable devices were included. The QUADAS-2 tool and proposed standards for validation for seizure detection devices were used for quality assessment. Twenty-four articles were identified and included in the analysis. Twenty studies evaluated seizure detection algorithms, and four studies focused on seizure prediction. Most studies used either a wrist-worn or chest-worn device for data acquisition. Among the seizure detection studies, cardiac parameters utilized for the algorithms mainly included heart rate (HR) (n = 11) or a combination of HR and heart rate variability (HRV) (n = 6). HR-based seizure detection studies collectively reported a sensitivity range of 56%-100% and a false alarm rate (FAR) of 0.02-8/h, with most studies performing retrospective validation of the algorithms. Three of the seizure prediction studies retrospectively validated multimodal algorithms, combining cardiac features with other physiological signals. Only one study prospectively validated their seizure prediction algorithm using HRV extracted from ECG data collected from a custom wearable device. These studies have demonstrated the feasibility of using cardiac parameters for seizure detection and prediction with wearable devices, with varying algorithmic performance. Many studies are in the proof-of-principle stage, and evidence for real-time detection or prediction is currently limited. Future studies should prioritize further refinement of the algorithm performance with prospective validation using large-scale longitudinal data. PLAIN LANGUAGE SUMMARY: This systematic review highlights the potential use of wearable devices, like wristbands, for detecting and predicting seizures via the measurement of heart activity. By reviewing 24 articles, it was found that most studies focused on using heart rate and changes in heart rate for seizure detection. There was a lack of studies looking at seizure prediction. The results were promising but most studies were not conducted in real-time. Therefore, more real-time studies are needed to verify the usage of heart activity-related wearable devices to detect seizures and even predict them, which will be beneficial to people with epilepsy.