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":null,"pages":null},"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":null,"pages":null},"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":null,"pages":null},"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":null,"pages":null},"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":null,"pages":null},"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}
Abstract Stereoelectroencephalography (SEEG) has experienced an explosion in use due to a shifting understanding of epileptic networks and wider application of minimally invasive epilepsy surgery techniques. Both subdural electrode (SDE) monitoring and SEEG serve important roles in defining the epileptogenic zone, limiting functional deficits, and formulating the most effective surgical plan. Strengths of SEEG include the ability to sample difficult to reach, deep structures of the brain without a craniotomy and without disrupting the dura. SEEG is complementary to minimally invasive epilepsy treatment options and may reduce the treatment gap in patients who are hesitant about craniotomy and surgical resection. Understanding the strengths and limitations of SDE monitoring and SEEG allows epileptologists to choose the best modality of invasive monitoring for each patient living with drug-resistant seizures.
{"title":"Invasive Epilepsy Monitoring: The Switch from Subdural Electrodes to Stereoelectroencephalography","authors":"R. Coorg, Elaine S. Seto","doi":"10.1055/s-0042-1760105","DOIUrl":"https://doi.org/10.1055/s-0042-1760105","url":null,"abstract":"Abstract Stereoelectroencephalography (SEEG) has experienced an explosion in use due to a shifting understanding of epileptic networks and wider application of minimally invasive epilepsy surgery techniques. Both subdural electrode (SDE) monitoring and SEEG serve important roles in defining the epileptogenic zone, limiting functional deficits, and formulating the most effective surgical plan. Strengths of SEEG include the ability to sample difficult to reach, deep structures of the brain without a craniotomy and without disrupting the dura. SEEG is complementary to minimally invasive epilepsy treatment options and may reduce the treatment gap in patients who are hesitant about craniotomy and surgical resection. Understanding the strengths and limitations of SDE monitoring and SEEG allows epileptologists to choose the best modality of invasive monitoring for each patient living with drug-resistant seizures.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2022-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77396519","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 field of minimally invasive surgery has evolved over the past 50 years, including neurosurgery, with an evolution to “minimally invasive neurosurgery” when feasible. Epilepsy surgery has followed this trend, with a transition from standard neurosurgical techniques to minimally invasive techniques in all phases of neurosurgical involvement. These include the diagnostic intracranial electroencephalogram with a subdural exploration to stereoelectroencephalography, the actual resection from an open craniotomy to a less destructive technique, or the multiple modalities of neuromodulation instead of a destructive surgery. The influence of these minimally invasive techniques has resulted in a change in the overall philosophy of pediatric epilepsy surgery. The expectations of what is considered “successful” epilepsy surgery has changed from total seizure control, in other words, a “cure,” to palliative epilepsy surgery with a decrease in the targeted seizures, especially “disabling seizures.” This has led to an overall greater acceptance of epilepsy surgery. This article summarizes the major reasons behind the explosion of minimally invasive pediatric epilepsy surgery, which are amplified in the subsequent articles. Some of this chapter includes the authors' opinions.
{"title":"An Introduction to Minimally Invasive Pediatric Epilepsy Surgery","authors":"J. Riviello, D. Curry, H. Weiner","doi":"10.1055/s-0042-1759876","DOIUrl":"https://doi.org/10.1055/s-0042-1759876","url":null,"abstract":"Abstract The field of minimally invasive surgery has evolved over the past 50 years, including neurosurgery, with an evolution to “minimally invasive neurosurgery” when feasible. Epilepsy surgery has followed this trend, with a transition from standard neurosurgical techniques to minimally invasive techniques in all phases of neurosurgical involvement. These include the diagnostic intracranial electroencephalogram with a subdural exploration to stereoelectroencephalography, the actual resection from an open craniotomy to a less destructive technique, or the multiple modalities of neuromodulation instead of a destructive surgery. The influence of these minimally invasive techniques has resulted in a change in the overall philosophy of pediatric epilepsy surgery. The expectations of what is considered “successful” epilepsy surgery has changed from total seizure control, in other words, a “cure,” to palliative epilepsy surgery with a decrease in the targeted seizures, especially “disabling seizures.” This has led to an overall greater acceptance of epilepsy surgery. This article summarizes the major reasons behind the explosion of minimally invasive pediatric epilepsy surgery, which are amplified in the subsequent articles. Some of this chapter includes the authors' opinions.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2022-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90863362","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}
Gamma-aminobutyric acid transaminase (GABA-T) deficiency is a rare, autosomal recessive disorder caused by mutations in the 4-aminobutyrate aminotransferase (ABAT) gene, which encodes an enzyme involved in GABA catabolism. It is characterized by severe psychomotor retardation, early-onset epileptic encephalopathy, intractable seizures, hypotonia, hyperreflexia, movement disorder, hypersomnolence, and early childhood mortality. It is associated with elevated free GABA in cerebrospinal fluid (CSF), GABA-T deficiency in cultured lymphoblasts, hypomyelination on brain magnetic resonance imaging (MRI), and elevated GABA level in the basal ganglia on proton magnetic resonance spectroscopy (MRS). Only 14 cases have been published in the literature. A rare case of infantile epileptic encephalopathy caused by GABA-T deficiency resulting from a previously unreported homozygous missense mutation in the ABAT gene is described. Our findings add to the phenotypic, neuroradiological, and genetic spectrum of ABAT mutations.
{"title":"Gamma-Aminobutyric Acid Transaminase (GABA-T) Deficiency in a Consanguineous Saudi Family: A Case Report and Literature Review","authors":"A. Kentab","doi":"10.1055/s-0042-1757447","DOIUrl":"https://doi.org/10.1055/s-0042-1757447","url":null,"abstract":"Gamma-aminobutyric acid transaminase (GABA-T) deficiency is a rare, autosomal recessive disorder caused by mutations in the 4-aminobutyrate aminotransferase (ABAT) gene, which encodes an enzyme involved in GABA catabolism. It is characterized by severe psychomotor retardation, early-onset epileptic encephalopathy, intractable seizures, hypotonia, hyperreflexia, movement disorder, hypersomnolence, and early childhood mortality. It is associated with elevated free GABA in cerebrospinal fluid (CSF), GABA-T deficiency in cultured lymphoblasts, hypomyelination on brain magnetic resonance imaging (MRI), and elevated GABA level in the basal ganglia on proton magnetic resonance spectroscopy (MRS). Only 14 cases have been published in the literature. A rare case of infantile epileptic encephalopathy caused by GABA-T deficiency resulting from a previously unreported homozygous missense mutation in the ABAT gene is described. Our findings add to the phenotypic, neuroradiological, and genetic spectrum of ABAT mutations.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2022-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86413554","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 In this article, we reviewed the use of oral dextrose gel in neonatal hypoglycemia (NH) and examined tahneek practices from past to present to draw attention to the importance of tahneek for newborn infants. NH, a common metabolic problem, is one of the most common causes of neonatal seizures. A universal approach to diagnosis and management of NH is still lacking. Although oral dextrose gel is the recommended first-line treatment for the management of NH, it may cause a hyperinsulinemic response. Date is an essential high-energy food with a low glycemic index. Tahneek, rubbing of chewed date on the soft palate of the neonate immediately after delivery, has been performed for over 1,400 years because it is one of the Prophet Muhammad's (Sallallahu Alayhi Wa Sallam) sunnahs. It has been noted that tahneek may be alternative to dextrose gel for prophylaxis and treatment of NH; however, no clinical study has been published about this subject according to the best of our knowledge. We think that tahneek practice is more effective, and safer option than oral dextrose gel because of low glycemic index of date. We also believe that tahneek practice has many benefits for newborn infants, because dates have antioxidant, antimicrobial, and anti-inflammatory properties. Randomized controlled studies, including large series, should be conducted about effects of tahneek practice on newborns.
在这篇文章中，我们回顾了口服葡萄糖凝胶治疗新生儿低血糖(NH)的应用，并检查了从过去到现在的tataneek实践，以引起人们对新生儿tataneek重要性的关注。NH是一种常见的代谢问题，是新生儿癫痫发作的最常见原因之一。目前仍缺乏一种普遍的诊断和管理NH的方法。虽然口服葡萄糖凝胶是推荐的治疗NH的一线治疗方法，但它可能导致高胰岛素反应。枣是一种重要的高能量食物，血糖指数低。Tahneek是指在新生儿出生后立即将咀嚼过的枣子擦在软腭上，这种做法已经有1400多年的历史了，因为它是先知穆罕默德(Sallallahu Alayhi Wa salam)的圣训之一。已经注意到，tahneek可以替代葡萄糖凝胶预防和治疗NH;然而，据我们所知，还没有关于这一主题的临床研究发表。我们认为tataneek比口服葡萄糖凝胶更有效，更安全，因为它的血糖指数较低。我们也相信tahneek的做法对新生儿有很多好处，因为枣具有抗氧化、抗菌和抗炎的特性。应该进行随机对照研究，包括大系列研究，以了解塔尼克练习对新生儿的影响。
{"title":"Neonatal Hypoglycemia: Oral Dextrose Gel and Tahneek Practice","authors":"H. Çaksen","doi":"10.1055/s-0042-1760192","DOIUrl":"https://doi.org/10.1055/s-0042-1760192","url":null,"abstract":"Abstract In this article, we reviewed the use of oral dextrose gel in neonatal hypoglycemia (NH) and examined tahneek practices from past to present to draw attention to the importance of tahneek for newborn infants. NH, a common metabolic problem, is one of the most common causes of neonatal seizures. A universal approach to diagnosis and management of NH is still lacking. Although oral dextrose gel is the recommended first-line treatment for the management of NH, it may cause a hyperinsulinemic response. Date is an essential high-energy food with a low glycemic index. Tahneek, rubbing of chewed date on the soft palate of the neonate immediately after delivery, has been performed for over 1,400 years because it is one of the Prophet Muhammad's (Sallallahu Alayhi Wa Sallam) sunnahs. It has been noted that tahneek may be alternative to dextrose gel for prophylaxis and treatment of NH; however, no clinical study has been published about this subject according to the best of our knowledge. We think that tahneek practice is more effective, and safer option than oral dextrose gel because of low glycemic index of date. We also believe that tahneek practice has many benefits for newborn infants, because dates have antioxidant, antimicrobial, and anti-inflammatory properties. Randomized controlled studies, including large series, should be conducted about effects of tahneek practice on newborns.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2022-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84565452","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}
{"title":"Parental Concerns in Children with Febrile Convulsions","authors":"H. Çaksen","doi":"10.1055/s-0042-1757159","DOIUrl":"https://doi.org/10.1055/s-0042-1757159","url":null,"abstract":"","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2022-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85211252","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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