Monika Kovacs, Andras Fogarasi, Marta Hegyi, Zsuzsanna Siegler, Anna Kelemen, Monika Mellar, Anna Orbok, Gabor Simon, Kristof Farkas, Monika Bessenyei, Katalin Hollody
Objective
PCDH19-related epilepsy occurs predominantly in girls and is caused by pathogenic variant of the protocadherin-19 gene. The initial seizures usually develop in association with fever, begin on average at 15 months of age, and often occur in clusters. Autistic symptoms, intellectual disability, and sleep disturbance are often associated.
Methods
In our retrospective, multicenter study, we reviewed clinical data of nine children with epilepsy genetically confirmed to be associated with PCDH19.
Results
In the Hungarian patient population aged 0–18 years, the prevalence of PCDH19-related epilepsy was found to be lower (1/100000 live births in females) than the reported international data (4–5/100000 live births in females). Four of our nine patients had positive family history of epilepsy (cousins, sister, and mother). We assessed brain anomalies in three patients (in one patient focal cortical dysplasia and left anterior cingulate dysgenesis, and in two children right or left hippocampal sclerosis) and in another three cases incidentally identified benign alterations on brain MRI were found. The first seizure presented as a cluster in seven out of nine children. In seven out of nine cases occurred status epilepticus. Six out of nine children had autistic symptoms and only one child had normal intellectual development. Seven of our patients were seizure free with combined antiseizure medication (ASM). The most effective ASMs were levetiracetam, valproate, and clobazam.
Significance
The prevalence of PCDH19-related epilepsy is presumably underestimated because of the lack of widely performed molecular genetic evaluations. Molecular genetic testing including PCDH19 pathogenic variants is recommended for female patients with an onset of seizures before the age of 3 years.
{"title":"Multicenter retrospective study of patients with PCDH19-related epilepsy: The first Hungarian cohort","authors":"Monika Kovacs, Andras Fogarasi, Marta Hegyi, Zsuzsanna Siegler, Anna Kelemen, Monika Mellar, Anna Orbok, Gabor Simon, Kristof Farkas, Monika Bessenyei, Katalin Hollody","doi":"10.1002/epd2.20264","DOIUrl":"10.1002/epd2.20264","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>PCDH19-related epilepsy occurs predominantly in girls and is caused by pathogenic variant of the protocadherin-19 gene. The initial seizures usually develop in association with fever, begin on average at 15 months of age, and often occur in clusters. Autistic symptoms, intellectual disability, and sleep disturbance are often associated.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In our retrospective, multicenter study, we reviewed clinical data of nine children with epilepsy genetically confirmed to be associated with PCDH19.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In the Hungarian patient population aged 0–18 years, the prevalence of PCDH19-related epilepsy was found to be lower (1/100000 live births in females) than the reported international data (4–5/100000 live births in females). Four of our nine patients had positive family history of epilepsy (cousins, sister, and mother). We assessed brain anomalies in three patients (in one patient focal cortical dysplasia and left anterior cingulate dysgenesis, and in two children right or left hippocampal sclerosis) and in another three cases incidentally identified benign alterations on brain MRI were found. The first seizure presented as a cluster in seven out of nine children. In seven out of nine cases occurred status epilepticus. Six out of nine children had autistic symptoms and only one child had normal intellectual development. Seven of our patients were seizure free with combined antiseizure medication (ASM). The most effective ASMs were levetiracetam, valproate, and clobazam.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>The prevalence of PCDH19-related epilepsy is presumably underestimated because of the lack of widely performed molecular genetic evaluations. Molecular genetic testing including PCDH19 pathogenic variants is recommended for female patients with an onset of seizures before the age of 3 years.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 5","pages":"685-693"},"PeriodicalIF":1.9,"publicationDate":"2024-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epd2.20264","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141629181","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}
Gloria Ortiz-Guerrero, Judit M. Perez-Ortiz, Mariya Saify, Duygu Selcen, Anthony L. Fine
Content available: Video
可用内容：视频
{"title":"Gyratory seizures as a manifestation of possible generalized epilepsy","authors":"Gloria Ortiz-Guerrero, Judit M. Perez-Ortiz, Mariya Saify, Duygu Selcen, Anthony L. Fine","doi":"10.1002/epd2.20247","DOIUrl":"10.1002/epd2.20247","url":null,"abstract":"<p>Content available: Video</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 5","pages":"718-720"},"PeriodicalIF":1.9,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141565024","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}
The aim of the study was to assess whether children and adolescents with epilepsy are at higher risk of behavioral disturbances when they have concomitant cognitive disturbances.
Methods
Behavioral scores were generated using the Child Behavior Checklist (CBCL). Cognitive evaluation was applied by using different age appropriate versions of the Wechsler Intelligence Scale. CBCL scores (total, externalizing, internalizing) were compared between patients with and without intellectual disability (IQ score < 70 and ≥70, respectively).
Results
144 (10.2 mean age, 6.0–17.9 range) patients were recruited for the study. Patients with mild to moderate intellectual disability (full-scale intelligence quotient (FSIQ) < 70) were not at higher risk of behavioral disturbances (total CBCL score ≥ 63) than patients without cognitive impairment. The mean total CBCL score was 62.0 ± 10.6 (range 42.0–83.5, 95% CI 57.9–62.0) and 59.3 ± 10.3 (range 38.0–80.0, CI 57.4–61.2) for patients with FSIQ < 70 and ≥70, respectively. There was no correlation between FSIQ and total CBCL scores. These findings were true for all IQ subcategories.
Significance
Behavioral disturbances among children and adolescents with epilepsy occur despite the presence or absence of intellectual dysfunction with respect to full-scale IQ.
{"title":"Risk of behavioral disturbances in pediatric patients with epilepsy and mild to moderate cognitive impairment: A cross-sectional study","authors":"Carla Schader, Tristan Schmidlechner, Sonia Cornell, Lucia Gerstl, Regina Trollmann, Ingo Borggraefe","doi":"10.1002/epd2.20263","DOIUrl":"10.1002/epd2.20263","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The aim of the study was to assess whether children and adolescents with epilepsy are at higher risk of behavioral disturbances when they have concomitant cognitive disturbances.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Behavioral scores were generated using the Child Behavior Checklist (CBCL). Cognitive evaluation was applied by using different age appropriate versions of the Wechsler Intelligence Scale. CBCL scores (total, externalizing, internalizing) were compared between patients with and without intellectual disability (IQ score < 70 and ≥70, respectively).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>144 (10.2 mean age, 6.0–17.9 range) patients were recruited for the study. Patients with mild to moderate intellectual disability (full-scale intelligence quotient (FSIQ) < 70) were not at higher risk of behavioral disturbances (total CBCL score ≥ 63) than patients without cognitive impairment. The mean total CBCL score was 62.0 ± 10.6 (range 42.0–83.5, 95% CI 57.9–62.0) and 59.3 ± 10.3 (range 38.0–80.0, CI 57.4–61.2) for patients with FSIQ < 70 and ≥70, respectively. There was no correlation between FSIQ and total CBCL scores. These findings were true for all IQ subcategories.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>Behavioral disturbances among children and adolescents with epilepsy occur despite the presence or absence of intellectual dysfunction with respect to full-scale IQ.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 5","pages":"676-684"},"PeriodicalIF":1.9,"publicationDate":"2024-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/epd2.20263","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141545502","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}
<div> <section> <h3> Objective</h3> <p>Mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy (MOGHE) is a recently described, histopathologically and molecularly defined (<i>SLC35A2</i>-mutated) type of cortical malformation. Although increasingly recognized, the diagnosis of MOGHE remains a challenge. We present the characteristics of the first six patients diagnosed in Bulgaria, with the aim to facilitate identification, proper presurgical evaluation, and surgical treatment approach in this disease.</p> </section> <section> <h3> Methods</h3> <p>Revision of histopathological specimens of 202 patients operated on for drug-resistant focal epilepsy identified four cases with MOGHE. Another two were suggested, based on clinical characteristics and subsequently, were histologically confirmed. Sanger <i>SLC35A2</i> sequencing on paraffin-embedded or fresh-frozen brain tissue was performed. Analysis of seizure types, neuropsychological profiles, electroencephalographic (EEG), imaging features and epilepsy surgery outcomes was done.</p> </section> <section> <h3> Results</h3> <p>Three out of the six cases (50%) harbored pathogenic <i>SLC35A2</i> mutations. One patient had a heterozygous somatic variant with uncertain significance. Clinical characteristics included epilepsy onset in infancy (in 100% under 3 years of age), multiple seizure types, and moderate or severe intellectual/developmental delay. Epileptic spasms with hypsarrhythmia on EEG were the initial seizure type in five patients. The subsequent seizure types resembled those in Lennox–Gastaut syndrome. The majority of the patients (<i>n</i> = 4) presented prominent and persisting autistic features. Magnetic resonance imaging (MRI) showed multilobar (<i>n</i> = 6) and bilateral (<i>n</i> = 3) lesions, affecting the frontal lobes (<i>n</i> = 5; bilaterally in three) and characterized by increased signal on T2/fluid-attenuated inversion recovery (FLAIR). Voxel-based morphometric MRI post-processing and positron emission tomography helped determining the localization and extent of the lesions and presumed epileptogenic zones. After surgery, four patients (66.7%) were seizure-free ≥2 years. Interestingly, all seizure-free patients carried somatic <i>SLC35A2</i>-alterations.</p> </section> <section> <h3> Significance</h3> <p>Epileptic spasms, early prominent neuropsychological disturbances, MRI-T2/FLAIR hyperintense lesions with cortico-subcortical blurring, frequently multilobar and especially frontal, can preoperatively help to suspect MOGHE. Epilepsy surgery is still the only successful treatment option in MOGHE.</p> </section>
{"title":"Clinical characteristics and multimodal imaging can help diagnosing and treating mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy","authors":"Petia S. Dimova, Dimitar Metodiev, Tihomir Todorov, Albena Todorova, Kaloyan Gabrovski, Peter Karazapryanov, Marin Penkov, Yuri Todorov, Yoana Milenova, Denitza Stoyanova, Krassimir Minkin","doi":"10.1002/epd2.20261","DOIUrl":"10.1002/epd2.20261","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy (MOGHE) is a recently described, histopathologically and molecularly defined (<i>SLC35A2</i>-mutated) type of cortical malformation. Although increasingly recognized, the diagnosis of MOGHE remains a challenge. We present the characteristics of the first six patients diagnosed in Bulgaria, with the aim to facilitate identification, proper presurgical evaluation, and surgical treatment approach in this disease.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Revision of histopathological specimens of 202 patients operated on for drug-resistant focal epilepsy identified four cases with MOGHE. Another two were suggested, based on clinical characteristics and subsequently, were histologically confirmed. Sanger <i>SLC35A2</i> sequencing on paraffin-embedded or fresh-frozen brain tissue was performed. Analysis of seizure types, neuropsychological profiles, electroencephalographic (EEG), imaging features and epilepsy surgery outcomes was done.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Three out of the six cases (50%) harbored pathogenic <i>SLC35A2</i> mutations. One patient had a heterozygous somatic variant with uncertain significance. Clinical characteristics included epilepsy onset in infancy (in 100% under 3 years of age), multiple seizure types, and moderate or severe intellectual/developmental delay. Epileptic spasms with hypsarrhythmia on EEG were the initial seizure type in five patients. The subsequent seizure types resembled those in Lennox–Gastaut syndrome. The majority of the patients (<i>n</i> = 4) presented prominent and persisting autistic features. Magnetic resonance imaging (MRI) showed multilobar (<i>n</i> = 6) and bilateral (<i>n</i> = 3) lesions, affecting the frontal lobes (<i>n</i> = 5; bilaterally in three) and characterized by increased signal on T2/fluid-attenuated inversion recovery (FLAIR). Voxel-based morphometric MRI post-processing and positron emission tomography helped determining the localization and extent of the lesions and presumed epileptogenic zones. After surgery, four patients (66.7%) were seizure-free ≥2 years. Interestingly, all seizure-free patients carried somatic <i>SLC35A2</i>-alterations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>Epileptic spasms, early prominent neuropsychological disturbances, MRI-T2/FLAIR hyperintense lesions with cortico-subcortical blurring, frequently multilobar and especially frontal, can preoperatively help to suspect MOGHE. Epilepsy surgery is still the only successful treatment option in MOGHE.</p>\u0000 </section>\u0000 ","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 5","pages":"662-675"},"PeriodicalIF":1.9,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141494116","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}
Epileptic spasms (ES) can be caused by a variety of etiologies. However, in almost half of cases, the etiology is unidentified. With the advent of next-generation sequencing (NGS), the recognition of genetic etiologies has increased.
Methods
We retrospectively reviewed the medical records of patients with ES who were evaluated in the comprehensive epilepsy program at King Fahad Specialist Hospital Dammam between 2009 and 2022.
Results
Our data show that in 57.7% of patients with ES, the etiology was unidentified after a standard clinical evaluation and neuroimaging. Of these patients, n = 25 (35.2%) received a genetic diagnosis after some form of genetic testing, and 3.1% of patients from specialized metabolic work indicated the need for genetic testing to confirm the diagnosis. Karyotyping led to a diagnosis in 3.6% of patients, and chromosomal microarray led to a diagnosis in 7.1%. An NGS epilepsy gene panel (EP) was done for 45 patients, leading to a diagnosis in 24.4% (n = 11). Exome sequencing was done for 27 patients, including n = 14 with non-diagnostic panel testing; it led to a diagnosis in 37.3% (n = 10). Exome sequencing led to a diagnosis in 61.5% of patients without a previous panel test and in only two patients who had previously had a negative panel testing.
Significance
In this article, we present the diagnostic evaluations of ES for a cohort of 123 patients and discuss the yield and priority of NGS for evaluating ES. Our findings suggest that exome sequencing has a higher diagnostic yield for determining the etiology of ES in patients for whom the etiology is still unclear after an appropriate clinical assessment and a brain MRI.
目的：癫痫性痉挛（ES）可由多种病因引起。然而，几乎有一半的病例病因不明。随着下一代测序技术（NGS）的出现，对遗传病因的认识也在不断提高：我们回顾性审查了 2009 年至 2022 年期间在达曼法赫德国王专科医院接受综合癫痫项目评估的 ES 患者的病历：我们的数据显示，57.7%的 ES 患者在经过标准临床评估和神经影像学检查后病因不明。在这些患者中，n = 25（35.2%）人在经过某种形式的基因检测后获得了基因诊断，3.1%的专业代谢工作患者表示需要进行基因检测以确诊。有 3.6% 的患者通过核型检查确诊，7.1% 的患者通过染色体微阵列检查确诊。对 45 名患者进行了 NGS 癫痫基因面板 (EP)，结果 24.4% 的患者（n = 11）确诊。对 27 例患者进行了外显子组测序，其中包括 14 例未进行诊断性基因组检测的患者；37.3% 的患者（10 例）通过外显子组测序确诊。外显子组测序使61.5%既往未进行过全套检测的患者获得了诊断，只有两名既往全套检测结果为阴性的患者获得了诊断：在这篇文章中，我们介绍了对一组 123 名患者进行的 ES 诊断评估，并讨论了 NGS 在评估 ES 方面的收益和优先权。我们的研究结果表明，对于经过适当的临床评估和脑磁共振成像检查后病因仍不明确的患者，外显子组测序在确定 ES 病因方面具有更高的诊断率。
{"title":"Diagnostic evaluation of patients with epileptic spasms in the era of next-generation sequencing","authors":"Ali Mir, Mohammed AlQahtani, Fawzia Amer, Raidah AlBaradie, Wajd AlOtaibi, Fouad AlGhamdi, Hamoud Khallaf, Shahid Bashir, Gregory Costain, Liali Aljouda, Yousef Housawi","doi":"10.1002/epd2.20259","DOIUrl":"10.1002/epd2.20259","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Epileptic spasms (ES) can be caused by a variety of etiologies. However, in almost half of cases, the etiology is unidentified. With the advent of next-generation sequencing (NGS), the recognition of genetic etiologies has increased.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We retrospectively reviewed the medical records of patients with ES who were evaluated in the comprehensive epilepsy program at King Fahad Specialist Hospital Dammam between 2009 and 2022.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Our data show that in 57.7% of patients with ES, the etiology was unidentified after a standard clinical evaluation and neuroimaging. Of these patients, <i>n</i> = 25 (35.2%) received a genetic diagnosis after some form of genetic testing, and 3.1% of patients from specialized metabolic work indicated the need for genetic testing to confirm the diagnosis. Karyotyping led to a diagnosis in 3.6% of patients, and chromosomal microarray led to a diagnosis in 7.1%. An NGS epilepsy gene panel (EP) was done for 45 patients, leading to a diagnosis in 24.4% (<i>n</i> = 11). Exome sequencing was done for 27 patients, including <i>n</i> = 14 with non-diagnostic panel testing; it led to a diagnosis in 37.3% (<i>n</i> = 10). Exome sequencing led to a diagnosis in 61.5% of patients without a previous panel test and in only two patients who had previously had a negative panel testing.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Significance</h3>\u0000 \u0000 <p>In this article, we present the diagnostic evaluations of ES for a cohort of 123 patients and discuss the yield and priority of NGS for evaluating ES. Our findings suggest that exome sequencing has a higher diagnostic yield for determining the etiology of ES in patients for whom the etiology is still unclear after an appropriate clinical assessment and a brain MRI.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 5","pages":"651-661"},"PeriodicalIF":1.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141472215","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}
Brin Freund, Dileep Nair, Juan Bulacio, Imad Najm, Kenneth Taylor, Ahsan N. Moosa
Pupillary changes can be an important semiologic feature in focal epilepsy. Though the subcortical networks involving pupillomotor function have been described, cortical generators of pupillary dilation and constriction in humans are not well known. In this report, we describe a case of pupillary constriction occurring during seizures in a patient with drug resistant focal epilepsy. On stereoelectroencephalography, onset was noted within the posterior segment of the right intraparietal sulcus and direct cortical electrical stimulation of these electrode contacts reproduced pupillary constriction associated with habitual seizures. This is the first case report to describe ictal pupillary constriction during SEEG with confirmation of the cortical localization by direct cortical electrical stimulation. The posterior segment of the right intraparietal sulcus localization of pupillary constriction may aid in surgical evaluation patients with drug resistant focal epilepsy.
{"title":"Pupillary constriction on stimulation of the parietal cortex—A novel finding","authors":"Brin Freund, Dileep Nair, Juan Bulacio, Imad Najm, Kenneth Taylor, Ahsan N. Moosa","doi":"10.1002/epd2.20252","DOIUrl":"10.1002/epd2.20252","url":null,"abstract":"<p>Pupillary changes can be an important semiologic feature in focal epilepsy. Though the subcortical networks involving pupillomotor function have been described, cortical generators of pupillary dilation and constriction in humans are not well known. In this report, we describe a case of pupillary constriction occurring during seizures in a patient with drug resistant focal epilepsy. On stereoelectroencephalography, onset was noted within the posterior segment of the right intraparietal sulcus and direct cortical electrical stimulation of these electrode contacts reproduced pupillary constriction associated with habitual seizures. This is the first case report to describe ictal pupillary constriction during SEEG with confirmation of the cortical localization by direct cortical electrical stimulation. The posterior segment of the right intraparietal sulcus localization of pupillary constriction may aid in surgical evaluation patients with drug resistant focal epilepsy.</p>","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 5","pages":"701-707"},"PeriodicalIF":1.9,"publicationDate":"2024-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141472131","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}
Sara Bellido-Cuéllar, Ana Arteche-López, Miguel A. Martín, Rosa Ana Saiz-Díaz, Jesús González de la Aleja
{"title":"Comment on: Soft cerebellar signs unveil RARS2-related epilepsy","authors":"Sara Bellido-Cuéllar, Ana Arteche-López, Miguel A. Martín, Rosa Ana Saiz-Díaz, Jesús González de la Aleja","doi":"10.1002/epd2.20258","DOIUrl":"10.1002/epd2.20258","url":null,"abstract":"","PeriodicalId":50508,"journal":{"name":"Epileptic Disorders","volume":"26 5","pages":"727-728"},"PeriodicalIF":1.9,"publicationDate":"2024-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141472214","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}
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