I. Aleksandrova, A. Asenova, T. Todorov, S. Atemin, A. Maver, B. Peterlin, V. Mitev, A. Todorova, V. Bojinova
Abstract Purpose Pathogenic SCN8A variants are associated with a wide spectrum of clinical presentation, ranging from mild to severe epileptic phenotypes, cases of intellectual disability, or movement disorders without epilepsy. Ataxia and cerebellar atrophy are rarely described as components of the disease phenotype. Case Presentation We present the cases of male twins, born after normal pregnancy and delivery, both with normal neuropsychological but with delayed motor development in the first 2 years of life. Between 8 months and 9 years of age, the boys experienced generalized tonic-clonic seizures, several times per year. When 9 years old, the children suffered an increase in seizure frequency, and the family reported gradual worsening in coordination, speech, communication, and social skills. When 9 and a half years of age, the patients were admitted to the Clinic of Child Neurology for the first time. They both had coordination syndrome (intention tremor, dysmetria, dysdiadochokinesia) that had worsened compared with previous reports, and magnetic resonance imaging of the brain showed cerebellar atrophy. The genetic testing confirmed a mutation c.2617G > T, p.Gly873Cys in SCN8A gene. After adding lamotrigine to valproate and levetiracetam, and adjusting the dosage of valproate and levetiracetam, we observed good seizure control accompanied by improvement in the coordination syndrome. Conclusion The cerebellar atrophy in our patients is likely due to the underlying sodium channelopathy, as it was presented at the time of the seizure worsening, but we cannot exclude the role of the epileptic seizures as the worsening of the coordination syndrome accompanied the seizure aggravation, and the tendency toward improvement was evident after seizure control.
{"title":"Cerebellar Atrophy and Epilepsy in Twins with a Novel SCN8A Mutation","authors":"I. Aleksandrova, A. Asenova, T. Todorov, S. Atemin, A. Maver, B. Peterlin, V. Mitev, A. Todorova, V. Bojinova","doi":"10.1055/s-0043-1768657","DOIUrl":"https://doi.org/10.1055/s-0043-1768657","url":null,"abstract":"Abstract Purpose Pathogenic SCN8A variants are associated with a wide spectrum of clinical presentation, ranging from mild to severe epileptic phenotypes, cases of intellectual disability, or movement disorders without epilepsy. Ataxia and cerebellar atrophy are rarely described as components of the disease phenotype. Case Presentation We present the cases of male twins, born after normal pregnancy and delivery, both with normal neuropsychological but with delayed motor development in the first 2 years of life. Between 8 months and 9 years of age, the boys experienced generalized tonic-clonic seizures, several times per year. When 9 years old, the children suffered an increase in seizure frequency, and the family reported gradual worsening in coordination, speech, communication, and social skills. When 9 and a half years of age, the patients were admitted to the Clinic of Child Neurology for the first time. They both had coordination syndrome (intention tremor, dysmetria, dysdiadochokinesia) that had worsened compared with previous reports, and magnetic resonance imaging of the brain showed cerebellar atrophy. The genetic testing confirmed a mutation c.2617G > T, p.Gly873Cys in SCN8A gene. After adding lamotrigine to valproate and levetiracetam, and adjusting the dosage of valproate and levetiracetam, we observed good seizure control accompanied by improvement in the coordination syndrome. Conclusion The cerebellar atrophy in our patients is likely due to the underlying sodium channelopathy, as it was presented at the time of the seizure worsening, but we cannot exclude the role of the epileptic seizures as the worsening of the coordination syndrome accompanied the seizure aggravation, and the tendency toward improvement was evident after seizure control.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"5 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83389241","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Debarup Das, U. Chakraborty, S. Dubey, Bhaswar Bhattacharya, A. Pandit
Abstract Progressive myoclonic epilepsy (PME) is a spectrum with epileptic encephalopathy and myoclonus. In this case report authors describe a young patient presenting with refractory multifocal myoclonus with multiple seizure types with dyscognitive features. He was bed-bound with complete dependency on his caregivers. His electroencephalogram had an encephalopathy pattern, and his magnetic resonance imaging showed gross cortical atrophy. In this patient, the working clinical diagnosis of epileptic encephalopathy with PME phenotype had a wide differential list including neuronal ceroid lipofuscinosis, Lafora body disease, sialidosis, myoclonic epilepsy with ragged red fibers, dentatorubro-pallidoluysian atrophy, Unverricht–Lundborg, and other rare disorders such as Gaucher's disease and other genetic causes. Eventually after ruling out all common etiologies, whole-exome sequencing revealed a SERPINI1 gene mutation in exon 9 showing a pathogenic variant c1175G > A (p.Gly392Glu) which associated with PME as a part of familial encephalopathy with neuroserpin inclusion bodies.
进行性肌阵挛性癫痫(PME)是一种癫痫性脑病和肌阵挛的频谱。在这个案例中，报告作者描述了一个年轻的患者，表现为难治性多局灶性肌阵挛，并伴有多种癫痫发作类型和认知障碍特征。他卧床不起，完全依赖照顾他的人。脑电图表现为脑病型，核磁共振显示皮质严重萎缩。本例患者PME表型癫痫性脑病的临床有效诊断鉴别范围很广，包括神经元样脂褐质病、拉福拉体病、唾液增多症、红色纤维粗糙的肌阵挛性癫痫、齿状体-苍白球萎缩症、Unverricht-Lundborg，以及其他罕见疾病如戈谢病和其他遗传原因。最终，在排除了所有常见病因后，全外显子组测序显示，第9外显子serini1基因突变显示致病变异c1175G > a (p.Gly392Glu)，该变异与PME作为家族性脑病的一部分与神经丝氨酸蛋白包涵体相关。
{"title":"An Unusual Case of Progressive Myoclonic Epilepsy (PME): Familial Encephalopathy with Neuroserpin Inclusion Body (FENIB)","authors":"Debarup Das, U. Chakraborty, S. Dubey, Bhaswar Bhattacharya, A. Pandit","doi":"10.1055/s-0043-1769116","DOIUrl":"https://doi.org/10.1055/s-0043-1769116","url":null,"abstract":"Abstract Progressive myoclonic epilepsy (PME) is a spectrum with epileptic encephalopathy and myoclonus. In this case report authors describe a young patient presenting with refractory multifocal myoclonus with multiple seizure types with dyscognitive features. He was bed-bound with complete dependency on his caregivers. His electroencephalogram had an encephalopathy pattern, and his magnetic resonance imaging showed gross cortical atrophy. In this patient, the working clinical diagnosis of epileptic encephalopathy with PME phenotype had a wide differential list including neuronal ceroid lipofuscinosis, Lafora body disease, sialidosis, myoclonic epilepsy with ragged red fibers, dentatorubro-pallidoluysian atrophy, Unverricht–Lundborg, and other rare disorders such as Gaucher's disease and other genetic causes. Eventually after ruling out all common etiologies, whole-exome sequencing revealed a SERPINI1 gene mutation in exon 9 showing a pathogenic variant c1175G > A (p.Gly392Glu) which associated with PME as a part of familial encephalopathy with neuroserpin inclusion bodies.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"12 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85425543","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract Background Nearly 30% of patients with epilepsy are refractory to currently available antiseizure drugs (ASDs). Although the U.S. Food and Drug Administration approved perampanel (PER) for patients as young as 4 years, there are limited data on using PER in children. Objective The aim of this study was to determine the efficacy and tolerability of adjunctive PER treatment in children with refractory epilepsy (RE). Methodology This prospective intervention study was conducted in the tertiary care center, in Bengaluru, India from December 2020 to May 2022. PER was added after the failure of a minimum of two ASDs and patients with 6 months follow-up. Treatment response was classified as complete, partial, or none with ≥90, ≥50, and <50% reduction in seizure frequency, respectively. Adverse events and discontinuation data were used to assess tolerability. Results Our cohort consisted of 100 cases, a mean age of 9.3 ± 3.8 years and male:female ratio of 3:1. The predominant seizure type was generalized seizures (74%), and concomitant enzyme-inducing ASD use was noted in 27%. Structural etiology was noted in 57%. A total of 76% of participants responded to PER therapy (46% complete response and 30% partial response), while 23% showed no response and 1% discontinued the treatment. Adverse events were observed in 25% of participants (11/25 [44%] drowsiness/sedation, 10/25 [40%] behavioral problems, and 4 [16%] other side effects). Early PER add-on provided a statistically significant benefit over late PER add-on ( p = 0.01). Response to PER did not differ significantly with the type of seizure and ASD used ( p > 0.05). Conclusion Adjunctive PER therapy is safe and effective for treating children with RE. An early add-on of PER is more beneficial in controlling seizures than a late add-on.
{"title":"Study on Effectiveness and Tolerability of Adjunctive Perampanel Treatment in Children with Refractory Epilepsy in a Tertiary Care Center","authors":"V.K. Gowda, Jincy Thavalenga, R. C. Nanjundappa","doi":"10.1055/s-0043-1768658","DOIUrl":"https://doi.org/10.1055/s-0043-1768658","url":null,"abstract":"Abstract Background Nearly 30% of patients with epilepsy are refractory to currently available antiseizure drugs (ASDs). Although the U.S. Food and Drug Administration approved perampanel (PER) for patients as young as 4 years, there are limited data on using PER in children. Objective The aim of this study was to determine the efficacy and tolerability of adjunctive PER treatment in children with refractory epilepsy (RE). Methodology This prospective intervention study was conducted in the tertiary care center, in Bengaluru, India from December 2020 to May 2022. PER was added after the failure of a minimum of two ASDs and patients with 6 months follow-up. Treatment response was classified as complete, partial, or none with ≥90, ≥50, and <50% reduction in seizure frequency, respectively. Adverse events and discontinuation data were used to assess tolerability. Results Our cohort consisted of 100 cases, a mean age of 9.3 ± 3.8 years and male:female ratio of 3:1. The predominant seizure type was generalized seizures (74%), and concomitant enzyme-inducing ASD use was noted in 27%. Structural etiology was noted in 57%. A total of 76% of participants responded to PER therapy (46% complete response and 30% partial response), while 23% showed no response and 1% discontinued the treatment. Adverse events were observed in 25% of participants (11/25 [44%] drowsiness/sedation, 10/25 [40%] behavioral problems, and 4 [16%] other side effects). Early PER add-on provided a statistically significant benefit over late PER add-on ( p = 0.01). Response to PER did not differ significantly with the type of seizure and ASD used ( p > 0.05). Conclusion Adjunctive PER therapy is safe and effective for treating children with RE. An early add-on of PER is more beneficial in controlling seizures than a late add-on.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"9 1","pages":"098 - 102"},"PeriodicalIF":0.2,"publicationDate":"2023-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78590655","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract Juvenile myoclonic epilepsy (JME) is one of the most common idiopathic (genetic) generalized epilepsy syndromes. It occurs in healthy adolescents and is characterized by the triad of myoclonic jerks, generalized tonic-clonic seizures (GTCs), and absence seizures. The study's primary aim was to determine the demographic and clinical characteristics, family history of seizure, electroencephalogram findings, treatments, and short-term prognosis of patients diagnosed with JME. Patients diagnosed with JME at the Pediatric Neurology Department of Sağlık Bilimleri University Adana Numune Training and Research Hospitals were enrolled. Thirteen (30%) of 44 patients were male, whereas 31 (70%) were female, with a mean age at diagnosis of 14 ± 1.3 years. In total, 21 patients (48%) had a family history of epilepsy, and 14 patients (32%) had JME in their families. Those having a family history of JME seizures were identified at a younger age. Thirty (68%) patients presented with GTCs, while 14 (32%) presented with myoclonic seizures at the time of diagnosis. In the history, 98% of patients had myoclonus and one patient had an absence seizure. Patients with the first seizure type GTCs were diagnosed later, while patients with myoclonus were diagnosed earlier ( p < 0,05). The most precipitating factors for seizures were sleep deprivation and stress. Thirty-eight (86%) of the EEGs recorded during the initial admission was abnormal. Valproic acid was administered to 32 patients (73%), while levetiracetam was administered to 12 patients (27%) as the initial treatment. Forty-one (93%) of the patients exhibited a complete response to the initial medication therapy, while forty (91%) of the patients received monotherapy, and only four (9%) received polytherapy. JME may be well-controlled epilepsy with early diagnosis and appropriate treatment. A family history of JME is also common among patients with JME. Patients with the myoclonus as a first seizure type are diagnosed earlier than GTCs because of family awareness. A family history of JME may facilitate the diagnosis of new cases in the family.
{"title":"Clinical Characteristics and Prognosis of Juvenile Myoclonic Epilepsy: Single-Center Retrospective Study","authors":"T. Çelik, H. Başpınar","doi":"10.1055/s-0043-1764390","DOIUrl":"https://doi.org/10.1055/s-0043-1764390","url":null,"abstract":"Abstract Juvenile myoclonic epilepsy (JME) is one of the most common idiopathic (genetic) generalized epilepsy syndromes. It occurs in healthy adolescents and is characterized by the triad of myoclonic jerks, generalized tonic-clonic seizures (GTCs), and absence seizures. The study's primary aim was to determine the demographic and clinical characteristics, family history of seizure, electroencephalogram findings, treatments, and short-term prognosis of patients diagnosed with JME. Patients diagnosed with JME at the Pediatric Neurology Department of Sağlık Bilimleri University Adana Numune Training and Research Hospitals were enrolled. Thirteen (30%) of 44 patients were male, whereas 31 (70%) were female, with a mean age at diagnosis of 14 ± 1.3 years. In total, 21 patients (48%) had a family history of epilepsy, and 14 patients (32%) had JME in their families. Those having a family history of JME seizures were identified at a younger age. Thirty (68%) patients presented with GTCs, while 14 (32%) presented with myoclonic seizures at the time of diagnosis. In the history, 98% of patients had myoclonus and one patient had an absence seizure. Patients with the first seizure type GTCs were diagnosed later, while patients with myoclonus were diagnosed earlier ( p < 0,05). The most precipitating factors for seizures were sleep deprivation and stress. Thirty-eight (86%) of the EEGs recorded during the initial admission was abnormal. Valproic acid was administered to 32 patients (73%), while levetiracetam was administered to 12 patients (27%) as the initial treatment. Forty-one (93%) of the patients exhibited a complete response to the initial medication therapy, while forty (91%) of the patients received monotherapy, and only four (9%) received polytherapy. JME may be well-controlled epilepsy with early diagnosis and appropriate treatment. A family history of JME is also common among patients with JME. Patients with the myoclonus as a first seizure type are diagnosed earlier than GTCs because of family awareness. A family history of JME may facilitate the diagnosis of new cases in the family.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"19 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84511284","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract The introduction of neuromodulation was a revolutionary advancement in the antiseizure armamentarium for refractory epilepsy. The basic principle of neuromodulation is to deliver an electrical stimulation to the desired neuronal site to modify the neuronal functions not only at the site of delivery but also at distant sites by complex neuronal processes like disrupting the neuronal circuitry and amplifying the functions of marginally functional neurons. The modality is considered open-loop when electrical stimulation is provided at a set time interval or closed-loop when delivered in response to an incipient seizure. Neuromodulation in individuals older than 18 years with epilepsy has proven efficacious and safe. The use of neuromodulation is extended off-label to pediatric patients with epilepsy and the results are promising. Vagus nerve stimulation (VNS), responsive neurostimulation (RNS), and deep brain stimulation (DBS) are Food and Drug Administration-approved therapeutic techniques. The VNS provides retrograde signaling to the central nervous system, whereas DBS and RNS are more target specific in the central nervous system. While DBS is open-loop and approved for stimulation of the anterior nucleus of the thalamus, the RNS is closed-loop and can stimulate any cortical or subcortical structure. We will review different modalities and their clinical efficacy in individuals with epilepsy, with a focus on pediatric patients.
{"title":"Neuromodulation in Children with Drug-Resistant Epilepsy","authors":"I. Ali, Kimberly Houck, K. Sully","doi":"10.1055/s-0042-1760293","DOIUrl":"https://doi.org/10.1055/s-0042-1760293","url":null,"abstract":"Abstract The introduction of neuromodulation was a revolutionary advancement in the antiseizure armamentarium for refractory epilepsy. The basic principle of neuromodulation is to deliver an electrical stimulation to the desired neuronal site to modify the neuronal functions not only at the site of delivery but also at distant sites by complex neuronal processes like disrupting the neuronal circuitry and amplifying the functions of marginally functional neurons. The modality is considered open-loop when electrical stimulation is provided at a set time interval or closed-loop when delivered in response to an incipient seizure. Neuromodulation in individuals older than 18 years with epilepsy has proven efficacious and safe. The use of neuromodulation is extended off-label to pediatric patients with epilepsy and the results are promising. Vagus nerve stimulation (VNS), responsive neurostimulation (RNS), and deep brain stimulation (DBS) are Food and Drug Administration-approved therapeutic techniques. The VNS provides retrograde signaling to the central nervous system, whereas DBS and RNS are more target specific in the central nervous system. While DBS is open-loop and approved for stimulation of the anterior nucleus of the thalamus, the RNS is closed-loop and can stimulate any cortical or subcortical structure. We will review different modalities and their clinical efficacy in individuals with epilepsy, with a focus on pediatric patients.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"30 1","pages":"041 - 049"},"PeriodicalIF":0.2,"publicationDate":"2022-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74561154","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Angela P. Addison, J. P. Mcginnis, Joshua Ortiz-Guzman, Evelyne K. Tantry, Dhruv M. Patel, B. D. Belfort, Snigdha Srivastava, J. M. Romero, B. Arenkiel, D. Curry
Abstract To date, more than 100 clinical trials have used sequence-based therapies to address diseases of the pediatric central nervous system. The first targeted pathologies share common features: the diseases are severe; they are due (mostly) to single variants; the variants are well characterized within the genome; and the interventions are technically feasible. Interventions range from intramuscular and intravenous injection to intrathecal and intraparenchymal infusions. Whether the therapeutic sequence consists of RNA or DNA, and whether the sequence is delivered via simple oligonucleotide, nanoparticle, or viral vector depends on the disease and the involved cell type(s) of the nervous system. While only one active trial targets an epilepsy disorder—Dravet syndrome—experiences with aromatic L-amino acid decarboxylase deficiency, spinal muscular atrophy, and others have taught us several lessons that will undoubtedly apply to the future of gene therapy for epilepsies. Epilepsies, with their diverse underlying mechanisms, will have unique aspects that may influence gene therapy strategies, such as targeting the epileptic zone or nodes in affected circuits, or alternatively finding ways to target nearly every neuron in the brain. This article focuses on the current state of gene therapy and includes its history and premise, the strategy and delivery vehicles most commonly used, and details viral vectors, current trials, and considerations for the future of pediatric intracranial gene therapy.
{"title":"Molecular Neurosurgery: Introduction to Gene Therapy and Clinical Applications","authors":"Angela P. Addison, J. P. Mcginnis, Joshua Ortiz-Guzman, Evelyne K. Tantry, Dhruv M. Patel, B. D. Belfort, Snigdha Srivastava, J. M. Romero, B. Arenkiel, D. Curry","doi":"10.1055/s-0042-1760292","DOIUrl":"https://doi.org/10.1055/s-0042-1760292","url":null,"abstract":"Abstract To date, more than 100 clinical trials have used sequence-based therapies to address diseases of the pediatric central nervous system. The first targeted pathologies share common features: the diseases are severe; they are due (mostly) to single variants; the variants are well characterized within the genome; and the interventions are technically feasible. Interventions range from intramuscular and intravenous injection to intrathecal and intraparenchymal infusions. Whether the therapeutic sequence consists of RNA or DNA, and whether the sequence is delivered via simple oligonucleotide, nanoparticle, or viral vector depends on the disease and the involved cell type(s) of the nervous system. While only one active trial targets an epilepsy disorder—Dravet syndrome—experiences with aromatic L-amino acid decarboxylase deficiency, spinal muscular atrophy, and others have taught us several lessons that will undoubtedly apply to the future of gene therapy for epilepsies. Epilepsies, with their diverse underlying mechanisms, will have unique aspects that may influence gene therapy strategies, such as targeting the epileptic zone or nodes in affected circuits, or alternatively finding ways to target nearly every neuron in the brain. This article focuses on the current state of gene therapy and includes its history and premise, the strategy and delivery vehicles most commonly used, and details viral vectors, current trials, and considerations for the future of pediatric intracranial gene therapy.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"89 1","pages":"050 - 062"},"PeriodicalIF":0.2,"publicationDate":"2022-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76054258","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract Conventional epilepsy surgery performed by microsurgical dissection typically requires large cranial working windows created with high-speed drills and lengthy incisions. In the past few decades, minimally invasive techniques have been developed with smaller incisions, comparable efficacy, shorter hospitalizations, and better safety profiles. These minimally invasive alternatives utilize stereotactic, ultrasonic, radiotherapeutic, and endoscopic techniques. Although not able to completely replace conventional surgery for all etiologies of epilepsy, these minimally invasive techniques have revolutionized modern epilepsy surgery and have been an invaluable asset to the neurosurgeon's repertoire. The endoscope has allowed for surgeons to have adequate visualization during resective and disconnective epilepsy surgeries using keyhole or miniature craniotomies. Modern stereotactic techniques such as laser interstitial thermal therapy and radiofrequency ablation can be used as viable alternatives for mesial temporal lobe epilepsy and can destroy lesional tissue deep areas without the approach-related morbidity of microsurgery such as with hypothalamic hamartomas. These stereotactic techniques do not preclude future surgery in the settings of treatment failure and have been used successfully after failed conventional surgery. Multiple ablation corridors can be performed in a single procedure that can be used for lesioning of large targets or to simplify treating multifocal epilepsies. These stereotactic techniques have even been used successfully to perform disconnective procedures such as hemispherotomies and corpus callosotomies. In patients unable to tolerate surgery, stereotactic radiosurgery is a minimally invasive option that can result in improved seizure control with minimal procedural risks. Advances in minimally invasive neurosurgery provide viable treatment options for drug-resistant epilepsy with quicker recovery, less injury to functional brain, and for patients that may otherwise not choose conventional surgery.
{"title":"Minimally Invasive Destructive, Ablative, and Disconnective Epilepsy Surgery","authors":"J. Treiber, James C. Bayley, D. Curry","doi":"10.1055/s-0042-1760106","DOIUrl":"https://doi.org/10.1055/s-0042-1760106","url":null,"abstract":"Abstract Conventional epilepsy surgery performed by microsurgical dissection typically requires large cranial working windows created with high-speed drills and lengthy incisions. In the past few decades, minimally invasive techniques have been developed with smaller incisions, comparable efficacy, shorter hospitalizations, and better safety profiles. These minimally invasive alternatives utilize stereotactic, ultrasonic, radiotherapeutic, and endoscopic techniques. Although not able to completely replace conventional surgery for all etiologies of epilepsy, these minimally invasive techniques have revolutionized modern epilepsy surgery and have been an invaluable asset to the neurosurgeon's repertoire. The endoscope has allowed for surgeons to have adequate visualization during resective and disconnective epilepsy surgeries using keyhole or miniature craniotomies. Modern stereotactic techniques such as laser interstitial thermal therapy and radiofrequency ablation can be used as viable alternatives for mesial temporal lobe epilepsy and can destroy lesional tissue deep areas without the approach-related morbidity of microsurgery such as with hypothalamic hamartomas. These stereotactic techniques do not preclude future surgery in the settings of treatment failure and have been used successfully after failed conventional surgery. Multiple ablation corridors can be performed in a single procedure that can be used for lesioning of large targets or to simplify treating multifocal epilepsies. These stereotactic techniques have even been used successfully to perform disconnective procedures such as hemispherotomies and corpus callosotomies. In patients unable to tolerate surgery, stereotactic radiosurgery is a minimally invasive option that can result in improved seizure control with minimal procedural risks. Advances in minimally invasive neurosurgery provide viable treatment options for drug-resistant epilepsy with quicker recovery, less injury to functional brain, and for patients that may otherwise not choose conventional surgery.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"46 1","pages":"029 - 040"},"PeriodicalIF":0.2,"publicationDate":"2022-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85762775","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abstract Minimally invasive pediatric epilepsy surgery (MIPES) is a rising technique in the management of focal-onset drug-refractory epilepsy. Minimally invasive surgical techniques are based on small, focal interventions (such as parenchymal ablation or localized neuromodulation) leading to elimination of the seizure onset zone or interruption of the larger epileptic network. Precise localization of the seizure onset zone, demarcation of eloquent cortex, and mapping of the network leading to seizure propagation are required to achieve optimal outcomes. The toolbox for presurgical, noninvasive evaluation of focal epilepsy continues to expand rapidly, with a variety of options based on advanced imaging and electrophysiology. In this article, we will examine several of these diagnostic modalities from the standpoint of MIPES and discuss how each can contribute to the development of a localization-based hypothesis for potential surgical targets.
{"title":"The Noninvasive Evaluation for Minimally Invasive Pediatric Epilepsy Surgery (MIPES): A Multimodal Exploration of the Localization-Based Hypothesis","authors":"Deepankar Mohanty, Michael M. C. Quach","doi":"10.1055/s-0042-1760104","DOIUrl":"https://doi.org/10.1055/s-0042-1760104","url":null,"abstract":"Abstract Minimally invasive pediatric epilepsy surgery (MIPES) is a rising technique in the management of focal-onset drug-refractory epilepsy. Minimally invasive surgical techniques are based on small, focal interventions (such as parenchymal ablation or localized neuromodulation) leading to elimination of the seizure onset zone or interruption of the larger epileptic network. Precise localization of the seizure onset zone, demarcation of eloquent cortex, and mapping of the network leading to seizure propagation are required to achieve optimal outcomes. The toolbox for presurgical, noninvasive evaluation of focal epilepsy continues to expand rapidly, with a variety of options based on advanced imaging and electrophysiology. In this article, we will examine several of these diagnostic modalities from the standpoint of MIPES and discuss how each can contribute to the development of a localization-based hypothesis for potential surgical targets.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"27 1","pages":"009 - 020"},"PeriodicalIF":0.2,"publicationDate":"2022-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86024218","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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