Epileptic Disorders最新文献

{"title":"Determinants of health-related quality of life of patients with focal epilepsy: A systematic literature review","authors":"Pamela Engelhart,&nbsp;Caleb Marcin,&nbsp;Jason Lerner,&nbsp;David Dill,&nbsp;Gil L'Italien,&nbsp;Vlad Coric,&nbsp;Joyce Matsumoto,&nbsp;Michele H. Potashman","doi":"10.1002/epd2.20292","DOIUrl":"10.1002/epd2.20292","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Focal epilepsy can have significant negative impacts on a person's health-related quality of life (HRQoL). Although studies have been published on HRQoL in persons with focal epilepsy (PWFE), determinants of HRQoL have not been comprehensively examined. This systematic literature review (SLR) queried existing literature to identify aspects associated with HRQoL in PWFE without focus on resective epilepsy surgery, with an interest in identifying modifiable determinants for medical/nonmedical interventions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This SLR was conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Searches were conducted in PubMed and Google Scholar for articles published from January 1, 1900, to February 19, 2023, reporting on the association between HRQoL or employability and a range of demographic, psychosocial, or epilepsy-related factors and comorbidities in PWFE.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 879 abstracts were identified, with 126 manuscripts reviewed and 37 studies selected for inclusion that quantified the relationship between HRQoL and the variable of interest by multivariate (<i>N</i> = 21) or univariate only (<i>N</i> = 15) methods; 10 multivariate models also included univariate data. In adjusted models, the most commonly examined determinants of HRQoL included depression (<i>n</i> = 15/21), number of antiseizure medications (ASMs; <i>n</i> = 13/21), seizure frequency (continuous seizure count, <i>n</i> = 11/21; seizure freedom, <i>n</i> = 5/21), anxiety (<i>n</i> = 10/21), duration of disease (<i>n</i> = 9/21), and cognition (n = 9/21). Depression, anxiety, and cognition were frequently seen as significant contributors to HRQoL when studied (14/15 [93%], 9/10 [90%], and 7/9 [78%], respectively). Among concepts studied less frequently, ASM severity/adverse event burden was significant each time examined (in 5/19 studies). Attainment of seizure freedom and employability was significant 75% (<i>n</i> = 3/4) and 72% (<i>n</i> = 5/7) of the time, respectively.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>Poor HRQoL in PWFE can be attributed to a multitude of factors, including depression, anxiety, factors in disease management, and employability. An unmet need remains in addressing elements associated with poor HRQoL in this population.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"27 1","pages":"9-30"},"PeriodicalIF":1.9,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epd2.20292","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142640205","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Near SUDEP in a patient with craniosynostosis syndrome and temporal lobe encephaloceles","authors":"Joseph Ta,&nbsp;Christopher Smith,&nbsp;Nyasia Mayaudon Finley,&nbsp;Martin Gallagher,&nbsp;Andre LaGrange,&nbsp;Kelly Lowen,&nbsp;Trevor Meyer,&nbsp;Vivek Ganesh,&nbsp;Jay V. Shah,&nbsp;William Nobis","doi":"10.1002/epd2.20304","DOIUrl":"10.1002/epd2.20304","url":null,"abstract":"&lt;p&gt;Crouzon and Apert syndromes are rare genetic disorders characterized by craniosynostosis, a condition with premature fusion of sutures of the skull bones, which is occasionally associated with epilepsy. We report a case of a patient with Crouzon syndrome and medically refractory temporal lobe epilepsy with temporal encephaloceles that experienced a near sudden unexpected death in epilepsy (SUDEP) event. This case illuminates both the need to consider encephaloceles as a treatable lesional etiology of epilepsy in craniosynostosis syndromes and that postictal apnea may be an important mechanism of cardiorespiratory collapse seen in SUDEP, emphasizing the importance of cardiorespiratory monitoring.&lt;/p&gt;&lt;p&gt;The patient has a history of medically refractory focal presumed non-lesional epilepsy (onset age: 20 years old) and Crouzon syndrome. Informed consent was obtained from the patient. The patient suffers from focal seizures with impaired awareness (FIAS) and focal to bilateral tonic–clonic seizures (FBTCS). FIAS occur two to four times per month and have an aura of blurred vision, a sense of fear, and tachycardia at onset followed by dialepsis and oral automatisms. FBTCS occurs one to two times a year.&lt;/p&gt;&lt;p&gt;While in the EMU, the patient suffered a near SUDEP event (Figure 1). At the clinical onset, tachycardia (120 bpm) and oral automatisms were followed by versive left head and body turn before tonic stiffening, left lower extremity clonus, and generalized tonic–clonic convulsion. Electrographically there was rhythmic theta in the right frontotemporal region, evolving bilaterally. Postictally, he was apneic with a heart rate of 110 bpm and had diffuse postictal generalized EEG suppression (PGES). Within 12 s, he became bradycardic, and within another 40 s, he became asystolic for 17 s before a heart rate returned and quickly evolved into tachycardia (&gt; 140 bpm). Stertorous breaths are observed for the first time 2 mins and 15 s after the seizure ended. Immediately following the return of respiratory effort, the rapid tachycardia and diffuse PGES resolve. An arm wearable device captured generalized seizure onset via sEMG and motion sensors. A rapid response was called, and the patient was intubated. While no cardiorespiratory resuscitation was performed (CPR, rescue breathing, etc.), the patient had a cardiorespiratory arrest with no other cause, consistent with a near SUDEP.&lt;span&gt;&lt;sup&gt;1&lt;/sup&gt;&lt;/span&gt;&lt;/p&gt;&lt;p&gt;Temporal encephaloceles are increasingly recognized as a cause of drug-resistant temporal lobe epilepsy as surgical intervention renders patients seizure-free.&lt;span&gt;&lt;sup&gt;2&lt;/sup&gt;&lt;/span&gt; Because Apert and Crouzon&lt;span&gt;&lt;sup&gt;3&lt;/sup&gt;&lt;/span&gt; syndromes have encephaloceles, this may be a prominent etiology of epilepsy in patients with these syndromes. As they frequently have medically refractory epilepsy, they are at higher risk for SUDEP.&lt;span&gt;&lt;sup&gt;2, 3&lt;/sup&gt;&lt;/span&gt; Airway obstruction that is often associated with these syndromes may also put these","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"27 1","pages":"111-113"},"PeriodicalIF":1.9,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epd2.20304","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142631866","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A video case vignette: Persignation or sign of the cross as an ictal manifestation in a woman with temporal lobe epilepsy","authors":"Anilú Daza-Restrepo,&nbsp;Roxana Matus-Mayorga,&nbsp;Stephanie Pino,&nbsp;Nuria Cámpora,&nbsp;Alejandro Nasimbera,&nbsp;Manuela Villanueva,&nbsp;Luis Rivas,&nbsp;Vanessa Gómez,&nbsp;Silvia Oddo,&nbsp;Silvia Kochen,&nbsp;Brenda Giagante","doi":"10.1002/epd2.20307","DOIUrl":"10.1002/epd2.20307","url":null,"abstract":"<p>Content available: Video.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"27 1","pages":"117-120"},"PeriodicalIF":1.9,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142631864","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Highlighting the different facets of SMC1A truncating variants: Two patients with novel SMC1A pathogenic variants","authors":"Nada Amllal,&nbsp;Jaber Lyahyai,&nbsp;Lamiae Afif,&nbsp;Yamna Kriouile,&nbsp;Abdelaziz Sefiani,&nbsp;Siham Chafai Elalaoui","doi":"10.1002/epd2.20306","DOIUrl":"10.1002/epd2.20306","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"27 1","pages":"114-116"},"PeriodicalIF":1.9,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142607449","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"ILAE-sponsored EEG education: Which course is right for me?","authors":"Anthony Khoo","doi":"10.1002/epd2.20309","DOIUrl":"10.1002/epd2.20309","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"27 1","pages":"139-140"},"PeriodicalIF":1.9,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142583547","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CHD2-related epilepsy with eyelid myoclonia: Report of three cases","authors":"Hannah Padilla,&nbsp;Filippo Pinto e Vairo,&nbsp;Elaine C. Wirrell,&nbsp;Lily C. Wong-Kisiel,&nbsp;Anthony L. Fine,&nbsp;Brendan C. Lanpher,&nbsp;Kelsey M. Smith","doi":"10.1002/epd2.20305","DOIUrl":"10.1002/epd2.20305","url":null,"abstract":"<p>The aim of this study is to report three cases of epilepsy with eyelid myoclonia (EEM) with <i>CHD2</i> pathogenic variants. A database of 134 patients with EEM evaluated at Mayo Clinic sites was searched to identify patients with <i>CHD2</i> variants. The medical records of those identified were reviewed to describe their presentation, treatment, and clinical course. Three patients (2 males, 1 female) with EEM were found to harbor de novo <i>CHD2</i> pathogenic variants (c.2636C&gt;T p.(Ala879Val), c.3734delA p. (Lys1245Asnfs*4), and c.3896delTinsCG p. (Val1299Alafs*5)). All three patients had comorbid autism spectrum disorder (ASD), intellectual disability (ID), and attention deficit disorder (ADHD). Eyelid myoclonia was a prominent seizure type that persisted in the three patients despite trials of multiple antiseizure medications. Generalized tonic–clonic seizures occurred in two of the patients but were controlled with antiseizure medications. Genetic testing should be considered in patients presenting with EEM, especially when ADHD, ID, ASD, and drug-resistant seizures are present. Further understanding of the relationship between <i>CHD2</i> variants and epileptogenesis may provide important insights into the pathogenesis of EEM.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"27 1","pages":"90-95"},"PeriodicalIF":1.9,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142583545","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case of temporal lobe cavernoma causing epileptic spasms that resolved with surgical resection","authors":"Veeresh Kumar N. Shivamurthy,&nbsp;Jonathan Gursky,&nbsp;Elissa Yozawitz","doi":"10.1002/epd2.20295","DOIUrl":"10.1002/epd2.20295","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"27 1","pages":"100-102"},"PeriodicalIF":1.9,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142523506","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Two familial cases of infantile epileptic spasms syndrome associated with UDP-glucose-6-dehydrogenase deficiency","authors":"C. Suyo,&nbsp;G. Reyes Valenzuela,&nbsp;S. Melgarejo,&nbsp;M. Loos,&nbsp;M. Juanes,&nbsp;M. S. Touzon,&nbsp;G. Angarita,&nbsp;M. Mesa,&nbsp;C. Alonso,&nbsp;R. Caraballo","doi":"10.1002/epd2.20302","DOIUrl":"10.1002/epd2.20302","url":null,"abstract":"<p>Developmental and epileptic encephalopathies (DEEs) are severe forms of epilepsy characterized by seizure onset in infancy or childhood. The seizures are typically drug-resistant and often accompanied by significant alterations in the electroencephalogram (EEG). DEEs are associated with neurodevelopmental impairment, which can arise from both the epileptic activity itself and the underlying etiology, which is most often genetic in origin. We present the clinical and molecular features of two patients with DEE associated with a pathogenic variant in the <i>UGDH</i> gene. This gene encodes a protein that converts uridine diphosphate (UDP)-glucose into UDP-glucuronate, which plays a crucial role in the biosynthesis of glycosaminoglycans, essential components of the connective tissue and extracellular matrix. Both patients started with epileptic spasms associated with a pattern of hypsarrhythmia in the EEG at 4 months of age. Both developed global developmental delay and the physical examination revealed hypotonia and mildly dysmorphic features. In both families, there was another affected sibling with a similar clinical presentation, although genetic studies were not performed in one of these children. A homozygous pathogenic variant in the <i>UGDH</i> gene, NM_003359.4:c.131C&gt;T – p.(Ala44Val), previously reported to be associated with the described phenotype, was identified.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"27 1","pages":"82-89"},"PeriodicalIF":1.9,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142512241","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The curious case of the gene, the lesion, or neither","authors":"Alexander Freibauer,&nbsp;Bashayer Almohaimeed,&nbsp;Anita Datta","doi":"10.1002/epd2.20293","DOIUrl":"10.1002/epd2.20293","url":null,"abstract":"&lt;p&gt;With increased availability of genetic testing, more patients have been identified as having causative variants. With a greater amount of diagnostic certainty, there is uncertainty in its consideration in epilepsy surgery workup. We report a case of a boy with a &lt;i&gt;GRIN2B&lt;/i&gt; likely pathogenic variant, with medically refractory epilepsy who underwent epilepsy surgery evaluation, resulting in successful surgical resection with good outcome.&lt;/p&gt;&lt;p&gt;Our patient is a 15-year-old right-handed man, with seizure onset at three years of age. In the first six years of life, he had generalized tonic–clonic and myoclonic seizures that subsequently resolved. Since age seven, he has had medically refractory seizures characterized by a nonspecific aura, followed by repetition of a stereotyped phrase progressing to oral automatisms, right-sided head version, followed by right arm flexion and right-hand posturing. He was medically refractory on appropriate doses of lacosamide and lamotrigine and had previously failed nine other anti-seizure medications.&lt;/p&gt;&lt;p&gt;His past medical history is significant for depression, mild intellectual disability, attention difficulties, and behavioral dysregulation. His birth history was unremarkable. Family history was unremarkable. Initial EEG showed slowing and interictal discharges over the left temporal region. During EEG, a typical seizure was captured, with EEG onset of rhythmic delta over the left temporal chain (Figure 1A). MRI brain showed a lesion in the right occipitotemporal cortex, consistent with a multi nodular and vacuolating neuronal tumor (MVNT) (Figure 1B). A PET scan showed hypometabolism at the left temporal pole and medial temporal cortex. Subtraction SPECT showed increased perfusion to the left temporal pole. Whole exome sequencing identified a de novo heterozygous likely pathogenic &lt;i&gt;GRIN2B&lt;/i&gt; variant (p. Cys946Ter).&lt;/p&gt;&lt;p&gt;Although the epileptogenic zone seemingly localized to the left temporal region, the epileptogenic lesion was incongruent. Intracranial electroencephalography through stereotactic electrodes was performed to clarify this inconsistency. Although the patient's genetic variant likely explained his intellectual disability and seizures, as his seizures remained stereotyped and focal, he was still considered a possible surgical candidate.&lt;/p&gt;&lt;p&gt;Stereotactic electrodes were implanted with seven electrodes sampling the left hemisphere, and two electrodes in the right hemisphere, as demonstrated in Figure 2. Interictal activity was most prominent from the left temporal inferior gyrus and hippocampus. Six clinical seizures were captured, all with onset from the left hippocampus. Following explantation, clinical consensus was that the epileptogenic zone involved the left hippocampus, and a left temporal lobectomy was performed, guided by electrocorticography. Surgical pathology showed no evidence of a definitive primary epileptogenic process. Following surgery, the patient was seizure-free at 11","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"27 1","pages":"96-99"},"PeriodicalIF":1.9,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epd2.20293","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142512240","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ictal sign of the cross: A case report and a short literature review","authors":"Emilie Drion,&nbsp;Cristina Filipescu,&nbsp;Marc Zanello,&nbsp;Alessandro Moiraghi,&nbsp;Charles Mellerio,&nbsp;Benoît Crépon,&nbsp;Eléonore Guinard,&nbsp;Magali Boutin-Watine,&nbsp;Hajar Selhane,&nbsp;Estelle Pruvost-Robieux,&nbsp;Grégoire Demoulin,&nbsp;Johan Pallud,&nbsp;Elisabeth Landré,&nbsp;Martine Gavaret","doi":"10.1002/epd2.20303","DOIUrl":"10.1002/epd2.20303","url":null,"abstract":"<p>Content available: Video.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"27 1","pages":"106-110"},"PeriodicalIF":1.9,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142512239","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}