keyword
https://read.qxmd.com/read/38461125/drug-resistant-juvenile-myoclonic-epilepsy-a-literature-review
#1
REVIEW
A Nica
The ILAE's Task Force on Nosology and Definitions revised in 2022 its definition of juvenile myoclonic epilepsy (JME), the most common idiopathic generalized epilepsy disorder, but this definition may well change again in the future. Although good drug response could almost be a diagnostic criterion for JME, drug resistance (DR) is observed in up to a third of patients. It is important to distinguish this from pseudoresistance, which is often linked to psychosocial problems or psychiatric comorbidities. After summarizing these aspects and the various definitions applied to JME, the present review lists the risk factors for DR-JME that have been identified in numerous studies and meta-analyses...
March 8, 2024: Revue Neurologique
https://read.qxmd.com/read/38435952/complete-heart-block-and-ventricular-asystole-caused-by-vagus-nerve-stimulation-therapy
#2
Jarrod Warnock, Cody Ashcroft, Raphael J Sabado, Andrea Keithler, Serafim Perdikis
Left vagus nerve stimulation (VNS) is an advanced therapeutic option for refractory, drug-resistant epilepsy. A 45-year-old woman with a history of refractory catamenial focal epilepsy since age 16, treated with a five-drug antiepileptic regimen and VNS (implanted eight and one-half years prior), presented with dyspnea, chest discomfort, and lightheadedness. During observation, symptoms recurred and were associated with bradycardia (<20 bpm) and a complete atrioventricular node (AVN) block. Following admission, she continued to experience recurrent symptomatic AVN block and transient ventricular asystole, temporally correlated with her baseline seizure activity and resultant activation of her VNS...
January 2024: Curēus
https://read.qxmd.com/read/38304836/refractory-tonic-myoclonic-status-epilepticus-with-catamenial-recurrence-in-epilepsy-with-myoclonic-atonic-seizures-a-case-report
#3
Jacopo Proietti, Elena Fiorini, Gaetano Cantalupo, Elena Fontana, Tommaso Lo Barco, Cecilia Bonin, Bernardo Dalla Bernardina, Francesca Darra
In epilepsy with myoclonic-atonic seizures (EMA), status epilepticus (SE) may occur during the onset phase, uncommonly in post-puberal patients. We report a post-puberal patient with EMA who presented SE with insidious onset and catamenial recurrence. She had a stormy epilepsy onset at 4 years, with tonic seizures, atypical absences, and myoclonic-atonic seizures, in the absence of SE. After the onset phase, sporadic nocturnal tonic seizures persisted and a mild intellectual disability appeared. At the age of 7, after gonadotropin-releasing hormone analog administration due to central precocious puberty, she presented with SE characterized by recurrent atypical absences, tonic seizures, and awareness impairment, which was successfully treated in 4 days...
January 30, 2024: Heliyon
https://read.qxmd.com/read/38056933/perioperative-considerations-for-adult-patients-with-dravet-syndrome-in-regional-centres
#4
JOURNAL ARTICLE
Nguyen Hong Nhu Y Trinh, Amy Susan Reid, Barbara Robertson
Dravet syndrome (DS) is a rare and intractable severe form of epilepsy presenting in infancy with frequent prolonged myoclonic seizures and neurodevelopmental impairment, associated with a SCN1A gene mutation. Seizures are often triggered by temperature fluctuations and hyperthermia. This report presents a woman in her late adolescence with DS complicated with intractable catamenial epilepsy, a sex-specific form of epilepsy with seizure activity prominent during phases of the menstrual cycle. The patient underwent general anaesthesia for a hysteroscopy, cervical dilatation and endometrial curettage with Mirena insertion to improve seizure control...
December 6, 2023: BMJ Case Reports
https://read.qxmd.com/read/38036939/female-sex-steroids-and-epilepsy-part-1-a-review-of-reciprocal-changes-in-reproductive-systems-cycles-and-seizures
#5
REVIEW
Malak Alshakhouri, Cynthia Sharpe, Peter Bergin, Rachael L Sumner
Seizures, anti-seizure medications and the reproductive systems are reciprocally entwined. In Section 1 of this review, we outline how seizures may affect the hypothalamic-pituitary-gonadal axis thereby altering sex-steroids, while changes in sex-steroids across the menstrual cycle and changes in pharmacokinetics during pregnancy may alter seizure susceptibility. The literature indicates that females with epilepsy experience increased rates of menstrual disturbances and reproductive endocrine disorders. The latter include polycystic ovary syndrome, especially for females on valproate...
November 30, 2023: Epilepsia
https://read.qxmd.com/read/37925609/female-sex-steroids-and-epilepsy-part-2-a-practical-and-human-focus-on-catamenial-epilepsy
#6
REVIEW
Malak Alshakhouri, Cynthia Sharpe, Peter Bergin, Rachael L Sumner
Catamenial epilepsy is the best described and most researched sex-steroid specific seizure exacerbation. Yet despite this there are no current evidence based treatments nor an accepted diagnostic tool. The best tool we can currently have is tracking seizures over menstrual cycles however the reality of tracking seizures and menstrual cycles is fraught with challenges. In Part 1 (citation to be added on publication) of this two-part review we outlined the often complex and reciprocal relationship between seizures and sex steroids...
November 4, 2023: Epilepsia
https://read.qxmd.com/read/37872695/epilepsy-with-generalized-tonic-clonic-seizures-alone-electroclinical-features-and-prognostic-patterns
#7
JOURNAL ARTICLE
Emanuele Cerulli Irelli, Joanna Gesche, Sophie Schlabitz, Francesco Fortunato, Cecilia Catania, Alessandra Morano, Angelo Labate, Bernd J Vorderwülbecke, Antonio Gambardella, Betül Baykan, Martin Holtkamp, Carlo Di Bonaventura, Christoph P Beier
OBJECTIVE: Epilepsy with generalized tonic-clonic seizures alone (GTCA) is a common but poorly characterized idiopathic generalized epilepsy (IGE) syndrome. Hence, we investigated electroclinical features, seizure outcome, and antiseizure medication (ASM) withdrawal in a large cohort of GTCA patients. METHODS: In this multicenter retrospective study, GTCA patients defined according to the diagnostic criteria of the International League Against Epilepsy (2022) were included...
October 23, 2023: Epilepsia
https://read.qxmd.com/read/37732930/assisted-reproductive-technology-outcomes-and-management-considerations-for-people-with-epilepsy
#8
JOURNAL ARTICLE
Regan J Lemley, Paula Emanuela Voinescu
PURPOSE OF REVIEW: Epilepsy is a common neurologic condition amongst people with reproductive capacity, and assisted reproductive technology (ART) is being increasingly utilized. A recent population-based study described favorable outcomes of ART in this population, but other work shows how fluctuating sex hormones may influence medication concentrations and seizures. RECENT FINDINGS: This review discusses hormonal influences on epilepsy and catamenial epilepsy, considerations regarding fertility in women with epilepsy, emerging ART outcomes, and management considerations for people with epilepsy undergoing ART...
September 22, 2023: Current Opinion in Endocrinology, Diabetes, and Obesity
https://read.qxmd.com/read/37619655/a-scoping-review-of-hormonal-clinical-trials-in-menstrual-cycle-related-brain-disorders-studies-in-premenstrual-mood-disorder-menstrual-migraine-and-catamenial-epilepsy
#9
REVIEW
Jordan C Barone, Mitchell P Butler, Ashley Ross, Anna Patterson, Melissa Wagner-Schuman, Tory A Eisenlohr-Moul
UNLABELLED: Cyclic variations in hormones during the normal menstrual cycle underlie multiple central nervous system (CNS)-linked disorders, including premenstrual mood disorder (PMD), menstrual migraine (MM), and catamenial epilepsy (CE). Despite this foundational mechanistic link, these three fields operate independently of each other. In this scoping review (N = 85 studies), we survey existing human research studies in PMD, MM, and CE to outline the exogenous experimental hormone manipulation trials conducted in these fields...
October 2023: Frontiers in Neuroendocrinology
https://read.qxmd.com/read/37523796/drug-resistant-idiopathic-generalized-epilepsy-a-meta-analysis-of-prevalence-and-risk-factors
#10
REVIEW
Tong Jiang, Xiaohan Zhang, Mengwen Zhang, Min Liu, Haifang Zhu, Yanping Sun
BACKGROUND: Idiopathic generalized epilepsy (IGE) is a common epilepsy syndrome with early age onset and generally good seizure outcomes. This study aims to determine the incidence and predictive risk factors for drug-resistant IGE. METHODS: We systematically searched three databases (PubMed, Embase, and Cochrane Library) in November 2022 and included 12 eligible studies which reported long-term outcomes (mean = 14.05) after antiseizure medications (ASMs) from 2001 to 2020...
September 2023: Epilepsy & Behavior: E&B
https://read.qxmd.com/read/37452790/catamenial-epilepsy-occurrence-and-patterns-in-a-mixed-population-of-women-with-epilepsy
#11
JOURNAL ARTICLE
P Emanuela Voinescu, McKenna Kelly, Jacqueline A French, Cynthia Harden, Anne Davis, Connie Lau, Alexa Ehlert, Stephanie Allien, Emma Osterhaus, Sarah Barnard, Rishabh Jain, Page B Pennell
We evaluated the occurrence and distribution of patterns of catamenial epilepsy in a heterogenous cohort of women with epilepsy on no hormonal therapies, enrolled in a prospective, observational study. The primary aim of the study was pregnancy rate in women with epilepsy with no prior reproductive problems. In this analysis, we included women who recorded one or more menstrual cycles with one or more seizures. We measured progesterone concentrations for one to three cycles. We defined catamenial patterns as twofold or greater average daily seizure frequency around menstruation (C1), ovulation (C2), and for anovulatory cycles, from midcycle through menstruation (C3)...
September 2023: Epilepsia
https://read.qxmd.com/read/37361715/variation-in-prognosis-and-treatment-outcome-in-juvenile-myoclonic-epilepsy-a-biology-of-juvenile-myoclonic-epilepsy-consortium-proposal-for-a-practical-definition-and-stratified-medicine-classifications
#12
REVIEW
Guido Rubboli, Christoph P Beier, Kaja K Selmer, Marte Syvertsen, Amy Shakeshaft, Amber Collingwood, Anna Hall, Danielle M Andrade, Choong Yi Fong, Joanna Gesche, David A Greenberg, Khalid Hamandi, Kheng Seang Lim, Ching Ching Ng, Alessandro Orsini, Pasquale Striano, Rhys H Thomas, Jana Zarubova, Mark P Richardson, Lisa J Strug, Deb K Pal
Reliable definitions, classifications and prognostic models are the cornerstones of stratified medicine, but none of the current classifications systems in epilepsy address prognostic or outcome issues. Although heterogeneity is widely acknowledged within epilepsy syndromes, the significance of variation in electroclinical features, comorbidities and treatment response, as they relate to diagnostic and prognostic purposes, has not been explored. In this paper, we aim to provide an evidence-based definition of juvenile myoclonic epilepsy showing that with a predefined and limited set of mandatory features, variation in juvenile myoclonic epilepsy phenotype can be exploited for prognostic purposes...
2023: Brain communications
https://read.qxmd.com/read/37271660/developmental-and-epileptic-encephalopathy-in-a-young-italian-woman-with-a-de-novo-missense-variant-in-the-clcn4-gene-a-case-report
#13
Jessica Rossi, Marco Russo, Giuseppe Gobbi, Alessandra Terracciano, Roberta Zuntini, Stefano Giuseppe Caraffi, Antonio Novelli, Livia Garavelli, Franco Valzania, Romana Rizzi
INTRODUCTION: Raynaud-Claes syndrome is a very rare X-linked condition, characterized by intellectual disability, impaired language development, brain abnormalities, facial dysmorphisms and drug-resistant epilepsy. It is caused by loss-of-function variants in the CLCN4 gene, which encodes the 2Cl-/H + exchanger ClC-4, prominently expressed in the hippocampus and cerebellum. Different genotypic variants have been described, each exhibiting specific phenotypic characteristics...
June 2, 2023: Brain & Development
https://read.qxmd.com/read/37229848/progesterone-and-its-derivatives-for-the-treatment-of-catamenial-epilepsy-a-systematic-review
#14
REVIEW
B Nucera, F Rinaldi, F Dono, J Lanzone, G Evangelista, S Consoli, M Tappatà, F Narducci, S Troisi, E Trinka, F Brigo
OBJECTIVE: Catamenial epilepsy (CE) is defined as an increase in seizure frequency during specific phases of the menstrual cycle in women with epilepsy. The treatment usually includes a combination of non-hormonal and hormonal therapies. This systematic review summarizes the available data on the efficacy of progesterone and its derivates to treat CE. METHODS: We performed a systematic search of the literature to identify studies reporting data on the use of progesterone and its derivatives (any type and dose) for the treatment of CE...
July 2023: Seizure: the Journal of the British Epilepsy Association
https://read.qxmd.com/read/37030956/gender-issues-in-epileptic-patients
#15
REVIEW
Maggie L McNulty
Treatment approaches for epilepsy for both women and men are similar, however, there are special aspects that must be considered when caring for women with epilepsy. This includes how hormonal fluctuations may affect seizure frequency, contraception, and potential drug-drug interactions, and pregnancy planning to minimize and potentially mitigate any adverse neurodevelopmental outcomes and major congenital malformations. Adequate counseling for women across the lifespan can help prepare women for the future and optimize outcomes...
May 2023: Neurologic Clinics
https://read.qxmd.com/read/37021337/sex-based-electroclinical-differences-and-prognostic-factors-in-epilepsy-with-eyelid-myoclonia
#16
JOURNAL ARTICLE
Emanuele Cerulli Irelli, Enrico Cocchi, Georgia Ramantani, Alessandra Morano, Antonella Riva, Roberto H Caraballo, Loretta Giuliano, Tülay Yilmaz, Eleni Panagiotakaki, Francesca F Operto, Beatriz Gonzalez Giraldez, Simona Balestrini, Katri Silvennoinen, Sara Casciato, Marion Comajuan, Francesco Fortunato, Anna T Giallonardo, Rimma Gamirova, Antonietta Coppola, Giancarlo Di Gennaro, Angelo Labate, Vito Sofia, Gerhard J Kluger, Antonio Gambardella, Dorothee Kasteleijn-Nolst Trenite, Betul Baykan, Sanjay M Sisodiya, Alexis Arzimanoglou, Pasquale Striano, Carlo Di Bonaventura
Although a striking female preponderance has been consistently reported in epilepsy with eyelid myoclonia (EEM), no study has specifically explored the variability of clinical presentation according to sex in this syndrome. Here, we aimed to investigate sex-specific electroclinical differences and prognostic determinants in EEM. Data from 267 EEM patients were retrospectively analyzed by the EEM Study Group, and a dedicated multivariable logistic regression analysis was developed separately for each sex. We found that females with EEM showed a significantly higher rate of persistence of photosensitivity and eye closure sensitivity at the last visit, along with a higher prevalence of migraine with/without aura, whereas males with EEM presented a higher rate of borderline intellectual functioning/intellectual disability...
June 2023: Epilepsia
https://read.qxmd.com/read/36931823/a-comparison-of-statistical-versus-clinical-classifiers-of-seizure-clustering-in-women-with-catamenial-and-noncatamenial-epilepsy
#17
COMPARATIVE STUDY
Andrew G Herzog, Enrique Carrazana, Adrian L Rabinowicz
OBJECTIVE: We assessed whether (1) women with statistical clustering of daily seizure counts (DSCs) or seizure intervals (SIs) also showed clinical clustering, defined separately by ≥2 (≥2-SC) and ≥3 (≥3-SC) seizures on any single day; and (2) how these classifiers might apply to catamenial epilepsy. METHODS: This is a retrospective case-control analysis of data from 50 women with epilepsy (WWE). We assessed the relationships of the four classifiers to each other and to catamenial versus noncatamenial epilepsy using chi-squared, correlation, logistic regression, and receiver operating characteristic (ROC) analyses...
June 2023: Epilepsia
https://read.qxmd.com/read/36467455/individualised-prediction-of-drug-resistance-and-seizure-recurrence-after-medication-withdrawal-in-people-with-juvenile-myoclonic-epilepsy-a-systematic-review-and-individual-participant-data-meta-analysis
#18
JOURNAL ARTICLE
Remi Stevelink, Dania Al-Toma, Floor E Jansen, Herm J Lamberink, Ali A Asadi-Pooya, Mohsen Farazdaghi, Gonçalo Cação, Sita Jayalakshmi, Anuja Patil, Çiğdem Özkara, Şenay Aydın, Joanna Gesche, Christoph P Beier, Linda J Stephen, Martin J Brodie, Gopeekrishnan Unnithan, Ashalatha Radhakrishnan, Julia Höfler, Eugen Trinka, Roland Krause, Emanuele Cerulli Irelli, Carlo Di Bonaventura, Jerzy P Szaflarski, Laura E Hernández-Vanegas, Monica L Moya-Alfaro, Yingying Zhang, Dong Zhou, Nicola Pietrafusa, Nicola Specchio, Giorgi Japaridze, Sándor Beniczky, Mubeen Janmohamed, Patrick Kwan, Marte Syvertsen, Kaja K Selmer, Bernd J Vorderwülbecke, Martin Holtkamp, Lakshminarayanapuram G Viswanathan, Sanjib Sinha, Betül Baykan, Ebru Altindag, Felix von Podewils, Juliane Schulz, Udaya Seneviratne, Alejandro Viloria-Alebesque, Ioannis Karakis, Wendyl J D'Souza, Josemir W Sander, Bobby P C Koeleman, Willem M Otte, Kees P J Braun
BACKGROUND: A third of people with juvenile myoclonic epilepsy (JME) are drug-resistant. Three-quarters have a seizure relapse when attempting to withdraw anti-seizure medication (ASM) after achieving seizure-freedom. It is currently impossible to predict who is likely to become drug-resistant and safely withdraw treatment. We aimed to identify predictors of drug resistance and seizure recurrence to allow for individualised prediction of treatment outcomes in people with JME. METHODS: We performed an individual participant data (IPD) meta-analysis based on a systematic search in EMBASE and PubMed - last updated on March 11, 2021 - including prospective and retrospective observational studies reporting on treatment outcomes of people diagnosed with JME and available seizure outcome data after a minimum one-year follow-up...
November 2022: EClinicalMedicine
https://read.qxmd.com/read/36038205/sex-and-gender-differences-in-epilepsy
#19
JOURNAL ARTICLE
Lauren Hophing, Paulina Kyriakopoulos, Esther Bui
Sex and gender differences in epilepsy are important influencing factors in epilepsy care. In epilepsy, the hormonal differences between the sexes are important as they impact specific treatment considerations for patients at various life stages particularly during early adulthood with establishment of the menstrual cycle, pregnancy, perimenopause and menopause. Choice of antiseizure medication may have direct consequences on hormonal cycles, hormonal contraception, pregnancy and fetal risk of major congenital malformation...
2022: International Review of Neurobiology
https://read.qxmd.com/read/35932441/ferulic-acid-inhibits-catamenial-epilepsy-through-modulation-of-female-hormones
#20
JOURNAL ARTICLE
Harleen Kaur Dhillon, Tanveer Singh, Rajesh Kumar Goel
Approximately 40% of women with epilepsy experience perimenstrual seizure exacerbation, referred to as catamenial epilepsy. These seizures result from cyclic changes in circulating progesterone and estradiol levels and there is no effective treatment for this form of intractable epilepsy. We artificially increased progesterone levels and neurosteroid levels (pseudo-pregnancy) in adult Swiss albino female mice (19-23 g) by injecting them with pregnant mares' serum gonadotropin (5 IU s.c.), followed by human chorionic gonadotropin (5 IU s...
December 2022: Metabolic Brain Disease
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