Epileptic Disorders最新文献

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Sleep-related hypermotor seizures originating from the occipital lobe 源于枕叶的睡眠相关运动过度癫痫发作。
IF 1.9 4区 医学
Epileptic Disorders Pub Date : 2024-09-21 DOI: 10.1002/epd2.20285
Lara Wadi, Mays Khweileh, Shruti Agashe, Derek Southwell, Prachi Parikh, Birgit Frauscher
{"title":"Sleep-related hypermotor seizures originating from the occipital lobe","authors":"Lara Wadi,&nbsp;Mays Khweileh,&nbsp;Shruti Agashe,&nbsp;Derek Southwell,&nbsp;Prachi Parikh,&nbsp;Birgit Frauscher","doi":"10.1002/epd2.20285","DOIUrl":"10.1002/epd2.20285","url":null,"abstract":"<p>We present two unique cases of sleep-related hypermotor epilepsy (SHE) originating from the occipital lobe. Patients with sleep-related seizures and drug-resistant occipital lobe epilepsy were identified from the ANPHY lab stereo-electroencephalography (SEEG) research database at the Duke Comprehensive Epilepsy Center. We identified two young females with frequent sleep-related focal seizures and occasional focal to bilateral tonic clonic seizures characterized by hypermotor movements. During wakefulness, the semiology also involved an elementary visual aura. They meet the 2016 diagnostic criteria for SHE, and SEEG monitoring with cortical stimulation mapping identified an epileptogenic zone (EZ) within the occipital lobe, with most seizures occurring out of NREM 2 sleep. Responsive neurostimulation devices were implanted, which indicated a trend for event detections in nocturnal periods. Extrafrontal SHE has characteristically been described in the temporal, insular-opercular, and parietal lobes. Here, we demonstrate using SEEG-confirmed EZ identification, that SHE can also originate in the occipital lobe. In patients with sleep-related seizures and hypermotor behavior, occipital lobe seizures thus should not be excluded from the differential diagnosis. Key in identifying this rare localization is non-frontal aura semiology and delay to motor symptoms, which may be supported by a visual field deficit and structural MRI abnormality.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 6","pages":"868-874"},"PeriodicalIF":1.9,"publicationDate":"2024-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142300030","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}
引用次数: 0
Electrographic status epilepticus or encephalopathy in baclofen intoxication? 巴氯芬中毒的电图状态癫痫还是脑病?
IF 1.9 4区 医学
Epileptic Disorders Pub Date : 2024-09-18 DOI: 10.1002/epd2.20282
Mariam H. Hleuhel, Christoph P. Beier, Thomas Krøigård
{"title":"Electrographic status epilepticus or encephalopathy in baclofen intoxication?","authors":"Mariam H. Hleuhel,&nbsp;Christoph P. Beier,&nbsp;Thomas Krøigård","doi":"10.1002/epd2.20282","DOIUrl":"10.1002/epd2.20282","url":null,"abstract":"&lt;p&gt;Baclofen is a synthetic derivative of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA). It is considered first-line treatment for spasticity, particularly in spinal cord-related diseases such as multiple sclerosis, spinal cord injuries, and cerebral palsy. Doses between 80 and 2500 mg are associated with intoxication and more than 200 mg is associated with intensive care unit admission.&lt;span&gt;&lt;sup&gt;1&lt;/sup&gt;&lt;/span&gt; Commonly reported effects of baclofen overdose include muscle weakness, hemodynamic instability, cardiac arrhythmias, respiratory depression, CNS depression, and epileptic seizures.&lt;span&gt;&lt;sup&gt;2&lt;/sup&gt;&lt;/span&gt; The exact mechanism responsible for the proconvulsant effect of high baclofen doses is unknown. Indeed, low-dose baclofen rather exhibits antiepileptic effects. Thus, the clinical proconvulsant effects properties seem paradoxical. They may be explained by GABA receptors located presynaptically on GABAergic axonal terminals modulating neural activity.&lt;span&gt;&lt;sup&gt;1&lt;/sup&gt;&lt;/span&gt; Activation of presynaptic GABA receptors can lead to the inhibition of inhibition providing a potential mechanism for neuronal excitation.&lt;/p&gt;&lt;p&gt;Some early reports described the electroencephalographic features of baclofen toxicity as nonconvulsive status epilepticus (NCSE),&lt;span&gt;&lt;sup&gt;3&lt;/sup&gt;&lt;/span&gt; while others described them as consistent with baclofen-induced encephalopathy.&lt;span&gt;&lt;sup&gt;4&lt;/sup&gt;&lt;/span&gt; Since then, detailed Salzburg consensus criteria&lt;span&gt;&lt;sup&gt;5&lt;/sup&gt;&lt;/span&gt; and American Clinical Neurophysiology Society's (ACNS) Standardized Critical Care EEG Terminology criteria&lt;span&gt;&lt;sup&gt;6&lt;/sup&gt;&lt;/span&gt; for the diagnosis of NCSE have been defined. We describe the electroencephalographic findings in a 49-year-old woman with a reduced level of consciousness caused by intoxication with 300 mg of baclofen.&lt;/p&gt;&lt;p&gt;The patient had chronic pain, asthma, ischemic heart disease, hypertension, and cervical disc herniation. She was found unconscious with tongue bite, soaked with urine and with blood on her face. Paramedics administered 2.5 mg of midazolam. Neurological evaluation revealed small twitches in the left arm and shoulder and no other focal signs. Consciousness was reduced (GCS 11 [E3, V3, M5]). Due to clinical suspicion of NCSE, 5.5 g of levetiracetam was administered i.v., followed by 3.5 g of valproate and 200 mg of lacosamide. There was no clinical improvement. Drug screening was negative and there was no ethanol in the blood. Lactate, standard biochemistry, magnetic resonance imaging of the brain, and spinal fluid analysis including examination for autoimmune encephalitis antibodies was unremarkable.&lt;/p&gt;&lt;p&gt;EEG recorded the day after admission showed sharp generalized periodic discharges at a frequency of 26/10 seconds (Figure 1A) fulfilling Salzburg consensus and ACNS criteria for NCSE.&lt;span&gt;&lt;sup&gt;5, 6&lt;/sup&gt;&lt;/span&gt; However, this activity was terminated by auditory stimulation (Figure 1B) and followed by diffuse theta activity. The activity shown ","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 6","pages":"886-888"},"PeriodicalIF":1.9,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epd2.20282","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142267748","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}
引用次数: 0
The role of genetic testing in adult patients with unexplained epilepsy 基因检测在不明原因癫痫成年患者中的作用。
IF 1.9 4区 医学
Epileptic Disorders Pub Date : 2024-09-16 DOI: 10.1002/epd2.20286
Chi-Ting Chung, Ni-Chung Lee, I-Ting Lin, Pin-Yu Chen, Tun Jao
{"title":"The role of genetic testing in adult patients with unexplained epilepsy","authors":"Chi-Ting Chung,&nbsp;Ni-Chung Lee,&nbsp;I-Ting Lin,&nbsp;Pin-Yu Chen,&nbsp;Tun Jao","doi":"10.1002/epd2.20286","DOIUrl":"10.1002/epd2.20286","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Genetic causes are often overlooked in patients with epilepsy of unknown etiology, particularly in adults. We aimed to evaluate clinical features of genetic epilepsy and the utility of genetic testing.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We retrospectively screened consecutive unrelated adult epilepsy patients at an epilepsy clinic from April 2022 to May 2023. Patients with unknown etiology or special brain lesions were classified as unexplained epilepsy. In them, patients with young-onset seizures or family history of seizures who were recommended for and ultimately underwent genetic testing using either panel next-generation sequencing (NGS) or whole-exome sequencing (WES) were enrolled. A definite or probable genetic diagnosis was established through genotype–phenotype correlation. We compared the demographic characteristics between genetic epilepsy and other etiologies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of the 374 adult epilepsy patients, 258 were classified as unexplained epilepsy, 129 were suspected of having genetic epilepsy due to young-onset seizures or a positive family history, 33 underwent genetic testing; 13 harbored variants classified as pathogenic, and 6 reached a definite genetic diagnosis, resulting in a yield of 18%. Among the 27 patients without a definite genetic diagnosis, 7 had a nongenetic structural etiology. Patients with genetic etiology exhibited greater multisystem involvement particularly multiple structural anomalies and early childhood-onset seizures, but wasn't directly correlated with young-onset seizures or a positive family history. The diagnostic yield was comparable between panel NGS and WES.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>In adult patients with unexplained epilepsy, genetic epilepsy is more associated with multisystem involvement and multiple structural anomalies but not family history of seizures or young-onset seizures.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 6","pages":"814-826"},"PeriodicalIF":1.9,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142300031","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}
引用次数: 0
Characteristics of motion signal profiles of tonic–clonic, tonic, hyperkinetic, and motor seizures extracted from nocturnal video recordings 从夜间视频记录中提取的强直阵挛、强直、过度运动和运动性癫痫发作的运动信号特征。
IF 1.9 4区 医学
Epileptic Disorders Pub Date : 2024-09-16 DOI: 10.1002/epd2.20284
Petri Ojanen, Csaba Kertész, Jukka Peltola
{"title":"Characteristics of motion signal profiles of tonic–clonic, tonic, hyperkinetic, and motor seizures extracted from nocturnal video recordings","authors":"Petri Ojanen,&nbsp;Csaba Kertész,&nbsp;Jukka Peltola","doi":"10.1002/epd2.20284","DOIUrl":"10.1002/epd2.20284","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>In this study, characteristics of signal profiles formed by motion, oscillation, and sound signals were analyzed to evaluate generalizability and variability in a single patient setting (intra-patient variability) and between patients (inter-patient variability). As a secondary objective, the effect of brivaracetam intervention on signal profiles was explored.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Patient data included 13 hyperkinetic seizures, 65 tonic seizures, 13 tonic–clonic seizures, and 138 motor seizures from 11 patients. All patients underwent an 8-week monitoring, and after a 3-week baseline, brivaracetam was initiated. Motion, oscillation, and sound features extracted from the video were used to form signal profiles. Variance of signals was calculated, and combined median and quartile visualizations were used to visualize the results. Similarly, the effect of intervention was visualized.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Hyperkinetic motion signals showed a rapid increase in motion and sound signals without oscillations and achieved low intra-patient variance. Tonic component created a recognizable peak in motion signal typical for tonic and tonic–clonic seizures. For tonic seizures, inter-patient variance was low. Motor signal profiles were varying, and they did not form a generalizable signal profile. Visually recognizable changes were observed in the signal profiles of two patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>Video-based motion signal analysis enabled the extraction of motion features characteristic for different motor seizure types which might be useful in further development of this system. Tonic component formed a recognizable seizure signature in the motion signal. Hyperkinetic and motor seizures may have not only significantly different motion signal amplitude but also overlapping signal profile characteristics which might hamper their automatic differentiation. Motion signals might be useful in the assessment of movement intensity changes to evaluate the treatment effect. Further research is needed to test generalizability and to increase reliability of the results.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 6","pages":"804-813"},"PeriodicalIF":1.9,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epd2.20284","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142300029","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}
引用次数: 0
Methohexital-induced seizure during Wada test: A case report and alternative evaluation with etomidate 和田试验中甲氨蝶呤诱发的癫痫发作:病例报告和使用依托咪酯的替代评估
IF 1.9 4区 医学
Epileptic Disorders Pub Date : 2024-09-13 DOI: 10.1002/epd2.20287
Monika Thapa, Amber Goins, Pradeepthi Badugu, Jamie Toms, Amey Savardekar, Mostafa Hotait, Roohi Katyal
{"title":"Methohexital-induced seizure during Wada test: A case report and alternative evaluation with etomidate","authors":"Monika Thapa,&nbsp;Amber Goins,&nbsp;Pradeepthi Badugu,&nbsp;Jamie Toms,&nbsp;Amey Savardekar,&nbsp;Mostafa Hotait,&nbsp;Roohi Katyal","doi":"10.1002/epd2.20287","DOIUrl":"10.1002/epd2.20287","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 6","pages":"889-891"},"PeriodicalIF":1.9,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142267751","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}
引用次数: 0
Eye closure-induced seizures in Gaucher disease and progressive myoclonus epilepsy 戈谢病和进行性肌阵挛癫痫中闭眼诱发的癫痫发作
IF 1.9 4区 医学
Epileptic Disorders Pub Date : 2024-09-12 DOI: 10.1002/epd2.20274
Catarina Serrão, Alexandre Aldomiro, Sara Parreira, Ana Franco, Leonor Correia Guedes, Carla Bentes, Ana Rita Peralta
{"title":"Eye closure-induced seizures in Gaucher disease and progressive myoclonus epilepsy","authors":"Catarina Serrão,&nbsp;Alexandre Aldomiro,&nbsp;Sara Parreira,&nbsp;Ana Franco,&nbsp;Leonor Correia Guedes,&nbsp;Carla Bentes,&nbsp;Ana Rita Peralta","doi":"10.1002/epd2.20274","DOIUrl":"10.1002/epd2.20274","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 6","pages":"895-897"},"PeriodicalIF":1.9,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142188503","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}
引用次数: 0
Developmental and epileptic encephalopathies after successful treatment of pediatric ALL: A case series and review of literature 成功治疗小儿 ALL 后的发育和癫痫性脑病:病例系列和文献综述
IF 1.9 4区 医学
Epileptic Disorders Pub Date : 2024-09-11 DOI: 10.1002/epd2.20280
Vanita Shukla, Sylvia Cheng, Juliette Hukin, Linda Huh, Anita N. Datta
{"title":"Developmental and epileptic encephalopathies after successful treatment of pediatric ALL: A case series and review of literature","authors":"Vanita Shukla,&nbsp;Sylvia Cheng,&nbsp;Juliette Hukin,&nbsp;Linda Huh,&nbsp;Anita N. Datta","doi":"10.1002/epd2.20280","DOIUrl":"10.1002/epd2.20280","url":null,"abstract":"<p>Successful treatment of acute lymphoblastic leukemia (ALL) requires multiagent chemotherapy regimens and central nervous system prophylaxis, including intrathecal methotrexate. Although acute symptomatic seizures can occur during ALL treatment, epilepsy is less common. Furthermore, drug resistant epilepsy (DRE) is rare, presenting with two phenotypes: focal epilepsy, such as temporal lobe, or epileptic encephalopathies (EE), such as Lennox–Gastaut syndrome (LGS). For ALL survivors, the development of DRE has significant impact on morbidity, mortality, and quality of life. We describe four patients with ALL remission, who developed EEs, of which 3 had LGS. Mean age at ALL diagnosis was 1.9 years; range 1.1–2.5 years. All, but one, had normal development prior to ALL. No patient had CNS leukemic involvement. All patients received CNS prophylaxis with intrathecal methotrexate, without cranial radiotherapy. Three had symptomatic methotrexate neurotoxicity during treatment. The mean age at first seizure was 5.6 years; range 3.9–7.5 years, with a mean latency of 3.7 years from ALL diagnosis. All patients developed drug resistant EEs, moderate intellectual disability, and neuropsychiatric co-morbidities. Two patients had a minimal response to corpus callosotomy (CC), and one did not respond the ketogenic diet. Successful treatment of childhood ALL is rarely associated with the development of DRE and EEs. Young age at ALL diagnosis (&lt;3 years) may be a predisposing factor. Palliative treatments, including ketogenic diet and CC have limited benefit in these patients. Individual genetic susceptibility to MTX toxicity is likely related to epileptogenesis, and further research is required for epilepsy biomarkers.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 6","pages":"858-867"},"PeriodicalIF":1.9,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epd2.20280","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142188504","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}
引用次数: 0
Bilateral Todd's paralysis in a patient with left fronto-opercular epilepsy 一名左前小脑癫痫患者的双侧托德瘫痪
IF 1.9 4区 医学
Epileptic Disorders Pub Date : 2024-09-10 DOI: 10.1002/epd2.20278
Daniela Santos Oliveira, Helena Rocha, Duarte Vieira, Manuel Rito, Ricardo Rego
{"title":"Bilateral Todd's paralysis in a patient with left fronto-opercular epilepsy","authors":"Daniela Santos Oliveira,&nbsp;Helena Rocha,&nbsp;Duarte Vieira,&nbsp;Manuel Rito,&nbsp;Ricardo Rego","doi":"10.1002/epd2.20278","DOIUrl":"10.1002/epd2.20278","url":null,"abstract":"<p>Postictal paresis (“Todd's paralysis”) is commonly observed as a unilateral, transient motor weakness, lasting minutes to hours, after focal or focal to bilateral tonic–clonic seizures, contralateral to the epileptogenic zone. Bilateral postictal paresis is exceedingly rare and could be misinterpreted, especially if the preceding convulsive phase was not witnessed. An 18-year-old right-handed male patient with refractory focal epilepsy with seizure onset at age 3 years, was admitted for presurgical video-EEG monitoring. His seizures were predominantly nocturnal, consisting of a laryngeal somatosensory aura, occasionally evolving to bilateral tonic or tonic–clonic seizures with occasional asymmetrical limb extension during the tonic phase (right arm extension). Postictally, consciousness recovery was fast, if ever lost. At that stage, we documented severe dysarthria and bilateral symmetrical arm paresis lasting several minutes. The ictal pattern and interictal epileptiform activity were projected on the fronto-central midline. Brain MRI was highly suggestive of a bottom-of-sulcus dysplasia with underlying transmantle sign on the left premotor, fronto-opercular region and an FDG-PET-CT showed a concordant left fronto-operculo-insular hypometabolism. A complete lesionectomy was performed, with the additional guidance of intraoperative electrocorticography, resulting in sustained seizure freedom. Anatomo-pathology confirmed a type 2b focal cortical dysplasia. We speculate that, in our patient, a left fronto-opercular ictal onset with an early spread to both primary motor cortices and relative sparing of consciousness networks allowed the emergence of a clinically detectable postictal bilateral paresis.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 6","pages":"853-857"},"PeriodicalIF":1.9,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142188505","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}
引用次数: 0
Epilepsy with eyelid myoclonia in a patient with ATP1A3-related neurologic disorder 一名患有 ATP1A3 相关神经系统疾病的患者癫痫伴眼睑肌张力障碍。
IF 1.9 4区 医学
Epileptic Disorders Pub Date : 2024-09-05 DOI: 10.1002/epd2.20272
Ann Mertens, Maria T. Papadopoulou, Matthildi Athina Papathanasiou Terzi, Gaëtan Lesca, Mateusz Biela, Robert Smigiel, Eleni Panagiotakaki
{"title":"Epilepsy with eyelid myoclonia in a patient with ATP1A3-related neurologic disorder","authors":"Ann Mertens,&nbsp;Maria T. Papadopoulou,&nbsp;Matthildi Athina Papathanasiou Terzi,&nbsp;Gaëtan Lesca,&nbsp;Mateusz Biela,&nbsp;Robert Smigiel,&nbsp;Eleni Panagiotakaki","doi":"10.1002/epd2.20272","DOIUrl":"10.1002/epd2.20272","url":null,"abstract":"<p>We report on an 11 year old Polish girl who experienced paroxysmal episodes with decreased consciousness, (hemi)plegia, movement disorders, slurred speech, dysphagia, and abnormal eye movements. An extensive etiological work-up (brain MRI, EEG, EMG, NCS, toxic, metabolic, infectious, and auto-immune screening) was not conclusive. A genetic analysis with whole-exome sequencing demonstrated a de novo heterozygous mutation in the <i>ATP1A3</i> gene (c.2232C&gt;G, p.Asn744Lys). A 48 h video-EEG monitoring that was conducted in our unit later confirmed the absence of ictal discharge during an episode of hemidystonia, demonstrating its non-epileptic etiology. However, several discharges of generalized spike waves, which were facilitated by intermittent photic stimulation and eyelid closure were recorded, of which a few were associated with eyelid myoclonia. Taken together, these findings are characteristic of epilepsy with eyelid myoclonia. The clinical picture of this patient partially fulfills the diagnostic criteria of relapsing encephalopathy with cerebellar ataxia as well as alternating hemiplegia of childhood. It is increasingly recognized that the distinct syndromes described with <i>ATP1A3</i> mutations are overlapping and could be identified in the same patients. Certain variations in <i>ATP1A3</i> have been linked to an increased risk of developing generalized epilepsy syndromes. We hereby present the second case in the literature of a patient with epilepsy with eyelid myoclonia with an <i>ATP1A3-</i>related neurological disorder.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 6","pages":"847-852"},"PeriodicalIF":1.9,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epd2.20272","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142141605","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}
引用次数: 0
Efficacy of creatine supplementation in a patient with epilepsy with SLC6A8 gene mutations 补充肌酸对一名 SLC6A8 基因突变癫痫患者的疗效。
IF 1.9 4区 医学
Epileptic Disorders Pub Date : 2024-09-05 DOI: 10.1002/epd2.20277
Yiqi Zhang, Xianyun Liu, Xi Peng
{"title":"Efficacy of creatine supplementation in a patient with epilepsy with SLC6A8 gene mutations","authors":"Yiqi Zhang,&nbsp;Xianyun Liu,&nbsp;Xi Peng","doi":"10.1002/epd2.20277","DOIUrl":"10.1002/epd2.20277","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 6","pages":"879-881"},"PeriodicalIF":1.9,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142141604","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}
引用次数: 0
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