{"title":"Early MRI changes in status epilepticus: Associations with seizure characteristics, EEG findings, and prognosis in patients without large lesions","authors":"Munevver Ece Guven, Nevin Kuloglu Pazarci","doi":"10.1002/epd2.20338","DOIUrl":"10.1002/epd2.20338","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To investigate the role, frequency, and pattern of signal changes in cranial MRI associated with status epilepticus (SE) and their correlation with EEG and clinical findings in patients with large lesions, such as tumors, strokes, or major space-occupying anomalies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This retrospective cohort study included 44 patients diagnosed with SE between January 2013 and June 2019. Data on demographic and clinical characteristics, seizure semiology, SE features (type and prognosis), and EEG and MRI findings were collected from hospital records. The relationships between periictal MRI abnormalities, MRI lateralization, clinical semiology, EEG findings, SE prognosis, and outcome at discharge were analyzed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The median age of participants was 61.5 years, with 65.91% being female. Bilateral MRI signals were significantly more common in patients with generalized convulsive SE. Patients with SWI signal changes had a significantly lower median age and a higher percentage of previous epilepsy history. Increased signal intensity on DWI and T2-FLAIR sequences was observed in 86.4% and 22.7% of patients, respectively. Among those with increased DWI signals, the neocortex was a common localization (45.45%). The group with T2-FLAIR signal increases had a significantly lower median age, a higher percentage of generalized convulsive SE, and a lower percentage of non-convulsive SE. Poor prognosis was observed in 40.91% of patients, with generalized EEG findings significantly more frequent in this group.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>Periictal MRI findings in SE patients demonstrated significant associations with clinical presentation but showed no correlation with EEG or prognosis. Further research is needed to explore the link between MRI findings and SE prognosis in the acute phase.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"27 2","pages":"264-274"},"PeriodicalIF":1.9,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143374963","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}
Serena Mazzone, Laura Landolina, Anna Utili, Vincenzo Belcastro, Pasquale Striano, Duccio Maria Cordelli, Angelo Russo
{"title":"Neuropsychological analysis in sunflower syndrome suggests the involvement of the ventral attention network on right visual dorsal stream","authors":"Serena Mazzone, Laura Landolina, Anna Utili, Vincenzo Belcastro, Pasquale Striano, Duccio Maria Cordelli, Angelo Russo","doi":"10.1002/epd2.20330","DOIUrl":"10.1002/epd2.20330","url":null,"abstract":"<p>Sunflower syndrome, a rare photosensitive epilepsy characterized by handwaving episodes and fixation on light sources, remains poorly understood, especially regarding its neuropsychological profile. This study provides a detailed cognitive evaluation of two patients, revealing a likely disruption in the visual dorsal stream, with particular involvement of the ventral attention network (VAN). Despite normal overall intellectual functioning, both patients exhibited significant deficits in Processing Speed Index and inhibitory control, indicating selective executive dysfunction. Coupled with EEG anomalies predominantly in the right frontal lobe, these findings suggest right hemisphere involvement, potentially along the VAN pathway. This study highlights the need for further research, particularly functional neuroimaging, to better understand the neurocognitive aspects of sunflower syndrome and its impact on patients' quality of life.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"27 2","pages":"280-286"},"PeriodicalIF":1.9,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143366402","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":"Recurrent status epilepticus and severe bifrontal hypometabolism in PGAP1-related neurodevelopmental disorder","authors":"Samia Benabess, Kenneth A. Myers","doi":"10.1002/epd2.20336","DOIUrl":"10.1002/epd2.20336","url":null,"abstract":"<p>Glycophosphatidylinositol (GPI) plays an anchoring role, linking cell membranes to proteins.<span><sup>1</sup></span> GPI biosynthesis involves >20 proteins, including phosphatidylinositol glycans (PIGs) and post-GPI attachment to proteins (PGAPs).<span><sup>1</sup></span> Pathogenic variants in genes encoding PIGs and PGAPs are associated with global developmental impairment and congenital malformations.<span><sup>1</sup></span> <i>PGAP1</i> encodes an enzyme involved in GPI biosynthesis through the catalysis of GPI inositol deacylation.<span><sup>2</sup></span> Eight patients with PGAP1-related disorders have been described from five families, all with biallelic apparent loss-of-function variants.<span><sup>3-7</sup></span> The clinical phenotype involves severe to profound developmental impairment, with spastic quadriparesis, feeding problems, microcephaly, cerebral visual impairment, dyskinesia, and brain atrophy variably reported. Seizures were only reported in 2/8.<span><sup>4, 5</sup></span> We present two brothers with PGAP1-related disorder, including the proband with recurrent status epilepticus and severe bifrontal positron emission tomography (PET) hypometabolism.</p><p>A Pakistani male was born at term via caesarean section following a pregnancy complicated by gestational diabetes, preeclampsia, polyhydramnios, and antenatal diagnosis of congenital diaphragmatic hernia (CDH; Figure 1D). CDH repair was done at 72 h of life and was uncomplicated.</p><p>At age 6 months, recurrent status epilepticus developed with seizures involving unresponsiveness, writhing, and unusual eye movements, lasting >60 min and requiring emergency medication to stop. In adolescence, seizure semiology changed to involve tachycardia, unilateral head and eye deviation, and eventually bilateral tonic–clonic convulsions. These events lasted ~2 min but occurred in clusters that almost always required emergency medications, such as diazepam, midazolam, or phenytoin, to stop. This pattern continued for many years despite the sequential addition of clonazepam, clobazam, lamotrigine, and levetiracetam. The family used rectal diazepam 20 mg as initial status epilepticus treatment before calling an ambulance. Seizure severity improved in late adolescence on lamotrigine 200 mg bid, levetiracetam 1500 mg bid, clobazam 10 mg morning, 35 mg evening, and clonazepam 1.5 mg morning, 2.5 mg evening. When last seen at age 19 years, he had ~1 seizure/month but no longer had clusters or required rescue medication.</p><p>Past medical history was notable for sialorrhea, constipation, scoliosis, right orchidopexy, and dysphagia requiring gastrostomy tube insertion. He had obstructive sleep apnea requiring tonsillectomy/adenoidectomy but still required bilevel positive airway pressure treatment. He had cortical visual impairment and profound global developmental impairment with spastic quadriparesis. He never walked, could not hold objects, was non-verbal, and did not show a c","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"27 2","pages":"304-306"},"PeriodicalIF":1.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epd2.20336","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143076290","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}
Agnese Pantani, Susanna Rizzi, Carlotta Spagnoli, Carlo Alberto Cesaroni, Anna Cavalli, Stefano Giuseppe Caraffi, Adelaide Peruzzi, Francesca Peluso, Roberta Russo, Iris Scala, Roberta Zuntini, Livia Garavelli, Daniele Frattini, Carlo Fusco
{"title":"Myoclonic reflex and non-reflex seizures in a female child with Coffin–Lowry syndrome: Clinical vignette","authors":"Agnese Pantani, Susanna Rizzi, Carlotta Spagnoli, Carlo Alberto Cesaroni, Anna Cavalli, Stefano Giuseppe Caraffi, Adelaide Peruzzi, Francesca Peluso, Roberta Russo, Iris Scala, Roberta Zuntini, Livia Garavelli, Daniele Frattini, Carlo Fusco","doi":"10.1002/epd2.20335","DOIUrl":"10.1002/epd2.20335","url":null,"abstract":"<p>Content available: Video.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"27 2","pages":"299-303"},"PeriodicalIF":1.9,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143061300","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":"Recurrent obstructive sleep apnea precipitated by vagus nerve stimulator despite weight loss and uvulopalatopharyngoplasty","authors":"Derek C. P. Fisk, Marcus C. Ng","doi":"10.1002/epd2.20334","DOIUrl":"10.1002/epd2.20334","url":null,"abstract":"<p>Obstructive sleep apnea (OSA) is highly prevalent in epilepsy and significantly impacts severity and treatment effectiveness.<span><sup>1, 2</sup></span> Vagal nerve stimulators (VNS) are commonly used to treat drug-resistant epilepsy (DRE) and are associated with an increased risk of OSA.<span><sup>3-10</sup></span> Herein, we report a patient with DRE whose OSA recurred after VNS implantation despite a previous uncomplicated uvulopalatopharyngoplasty (UPPP) and significant weight loss.</p><p>In 1995, a 29-year-old right-handed male developed temporal lobe epilepsy (TLE) 2 years after a bout of viral meningitis. His seizures were refractory to multiple anti-seizure medications (ASM), cannabidiol, and a ketogenic diet. In 2003, he was diagnosed with OSA on a home sleep study (records unavailable) despite prior tonsillectomy. In 2005, he underwent UPPP and went on to lose 64 pounds, lowering his BMI from 34.7 to 25.8 kg/m<sup>2</sup>. All OSA symptoms resolved without the need for continuous positive airway pressure (CPAP). In 2013, he was referred to an epilepsy surgical center where he first received left lesional corticoamygdalectomy as part of a two-stage approach to minimize risks of memory impairment from a resection in the dominant hemisphere. Nevertheless, a larger resection was later planned if seizures persisted.</p><p>He continued experiencing focal unaware seizures with gustatory aura, most commonly upon awakening and triggered by sleep deprivation. These seizures were confirmed by video-EEG telemetry in 2016 but he initially declined pursuing the second stage of the two-staged approach recommended by the epilepsy surgical center due to persistent fears of memory impairment. Instead, he received a VNS (SenTiva™ M1000) in 2019. After the procedure, the dosing of his Lamotrigine, Topiramate, and Clobazam (started in 2010) remained unchanged. The device's autotitration schedule was followed to an output current (OC) of 1 mA. Settings were then increased every 2 months to optimize seizure control. During autotitration, he reported recurrent hoarseness and shortness of breath (OC: 0.25 mA) and throat tightness (OC: 1.0 mA). These symptoms occurred for less than a minute every 5 min, consistent with respective VNS signals on and off-times. At the settings displayed in Table S1 (Supporting information), he started experiencing unrefreshing sleep, increased daytime somnolence, and worsened snoring according to his partner.</p><p>In 2021, a home sleep study was performed at a time when OSA symptoms remained unchanged despite OC reduction from 1.75 to 1.625 mA. The study (Figure 1) confirmed moderate OSA. Sleep-disordered breathing events occurred at an oddly consistent frequency of three to four times every 10 min, closely corresponding to the 3-min VNS cycle. Trials of dental appliances and CPAP failed. In 2022, due to seizure persistence and the side effects described above, he requested VNS removal. Further trials of reduced settings were","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"27 2","pages":"295-298"},"PeriodicalIF":1.9,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epd2.20334","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143054156","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":"Functional seizures, epilepsy, or both: Is the short-term standard 30- to 60-min EEG really enough?","authors":"Parthvi Ravat, Mark Cook, Andrew Lee","doi":"10.1002/epd2.20332","DOIUrl":"10.1002/epd2.20332","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"27 2","pages":"319-320"},"PeriodicalIF":1.9,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143015683","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 contribution of Jean-Martin Charcot (1825–1893) and Albert Pitres (1848–1928) to the topographical diagnosis of focal motor seizures","authors":"Francesco Brigo","doi":"10.1002/epd2.20333","DOIUrl":"10.1002/epd2.20333","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"27 2","pages":"321-322"},"PeriodicalIF":1.9,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143015686","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":"Ictal semiology in temporo-frontal epilepsy: A systematic review and meta-analysis","authors":"Irina Oane, Andrei Barborica, Ioana Mîndruţă","doi":"10.1002/epd2.20328","DOIUrl":"10.1002/epd2.20328","url":null,"abstract":"<p>We performed a systematic review of the ictal semiology of temporo-frontal seizures with the aim to summarize the state-of-the-art anatomo-clinical correlations in the field, and help guide the interpretation of ictal semiology within the framework of presurgical evaluation. We conducted the systematic review and meta-analysis, and reported its results according to the Preferred Reporting Items for Systematic Review and Meta-Analysis statement. We searched electronic databases (Scopus, PUBMED, Web of Science, and EMBASE) using relevant keywords related to temporal, frontal and sublobar structures, semiology, and electroencephalography/stereoelectroencephalography exploration. The risk of bias was evaluated using the QUADAS2. We included articles in English, reporting the seizure semiology of patients with temporal lobe epilepsy with temporal-frontal involvement and patients with frontal lobe epilepsy and fronto-temporal network involved. We performed hierarchical cluster analysis to determine signs and symptoms associated with the temporo-frontal epileptogenic network for all patients and for each subgroup (frontal/temporal seizure onset). Fisher exact test was performed to evaluate the difference in seizure freedom and clinical sign/symptom occurrence in patients that underwent unilobar versus bilobar resection. Meta-analysis on the prevalence of temporo-frontal/fronto-temporal involvement applying a random-effect model was used. We included 40 articles and we extracted data from 109 patients. The meta-analysis showed the total prevalence of temporo-frontal/fronto-temporal network involvement was 19.75%, CI 12.02–27.47, high heterogeneity (82.71%). For the whole group and subgroups, the main cluster of clinical manifestations is emotional, autonomic, cognitive, grimace, hyperkinetic (association coefficient higher than .6). Elementary motor semiology is significantly associated with multilobar resection (<i>p</i> = .022 whole group and <i>p</i> = .0012 fronto-temporal subgroup). Fifty-eight patients were seizure-free after surgery. There was no significant difference between seizure freedom in uni versus bilobar resections (<i>p</i> = .28). Seizures involving temporo-frontal/fronto-temporal network usually manifest with a cluster of signs and symptoms: emotional, autonomic, grimace, cognitive and hyperkinetic behavior. Based on semiology, one cannot distinguish between fronto-temporal and temporo-frontal cases at individual patient level. In those patients undergoing a surgical procedure, elementary motor seizure semiology is significantly associated with multilobar resection.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"27 2","pages":"171-186"},"PeriodicalIF":1.9,"publicationDate":"2024-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epd2.20328","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142900034","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}
Oana Tarta-Arsene, Peter Winkler, Tom Pieper, Till Hartlieb, Andrea Zsoter, Irina Stan, Manfred Kudernatsch, Steffen Berweck, Hans Holthausen
{"title":"Epileptiform discharges in the context of self-limited pediatric focal epilepsy (EDSelFEC) in pediatric hemispherotomy patients: Role of white matter abnormalities","authors":"Oana Tarta-Arsene, Peter Winkler, Tom Pieper, Till Hartlieb, Andrea Zsoter, Irina Stan, Manfred Kudernatsch, Steffen Berweck, Hans Holthausen","doi":"10.1002/epd2.20311","DOIUrl":"10.1002/epd2.20311","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To investigate the frequency of epileptiform discharges associated with self-limited focal epilepsy (EDSelFEC) in children who have undergone a hemispherotomy and to evaluate whether patients with coexistence of EDSelFEC and structural hemispheric epilepsies differ from patients without coexistence of EDSelFEC and whether there are differences between the two groups with regard to preoperative management and postoperative outcome.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Data on 131 children who underwent a hemispherotomy between January 1999 and January 2015 were retrieved from the Epilepsy center's epilepsy surgery database. Children with EDSelFEC were compared with children without EDSelFEC with respect to epileptogenic hemispheric pathology, family history, age at epilepsy onset, timing of surgery, lesion laterality, preoperative cognitive function, response to sodium channel blocker antiepileptic medication, and surgical outcome. Parental consent was obtained.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>EDSelFECs were present in the EEG in 27 (21%) of the 131 cases. None of the patients had seizures associated with EDSelFECs. The percentages of EDSelFECs varied between pathology groups: vascular lesions: 38%, focal cortical dysplasia: 16%, polymicrogyria: 5%, Rasmussen encephalitis: 10%, hemimegalencephaly: 8%, mild malformation of cortical development with oligodendroglial hyperplasia:20%, other pathologies: 22%. EDSelFEC in the vascular group were significantly correlated with MRI changes showing white matter damage in addition to cortical damage (<i>p</i> =.02). 82.1% of EDSelFEC were located multifocal versus 4.8% multifocality in EDs other than EDSelFEC. EDSelFEC were significantly more often exacerbated by sodium channel blockers than EDs caused by structural (cortical) lesions. No differences were found between EDSelFEC+ and EDSelFEC− patients with respect to other variables studied.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>A significant number of children with hemispheric epileptogenic lesions, particularly children with pre-/perinatal vascular lesions, hemiplegia, and white matter lesions in addition to cortical lesions, presented with coexisting EDSelFEC.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"27 1","pages":"52-63"},"PeriodicalIF":1.9,"publicationDate":"2024-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142900032","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}