Abstract This is a case presentation of a patient with microcephaly, severe developmental delay, and refractory seizures who was found to have low levels of serum serine and glycine. Exome sequencing revealed a homozygous mutation in the 3-phosphoglycerate dehydrogenase deficiency (PHGDH) gene at chromosome 1p12. Cerebrospinal fluid (CSF) serine level was subsequently found to be low in keeping with the genetic diagnosis. L-glycine and L-serine supplements were started, which led to improvement in seizure burden. In this rare condition, seizure impact and psychomotor development can improve with supplementation of L-serine and L-glycine; therefore, timely diagnosis is crucial in the management of these patients. Our case also highlighted the role of molecular genetic testing in cases where CSF sampling is difficult, when there are typical clinical features of PHGDH. PHGDH is a rare disorder but should be considered in patients with microcephaly and refractory epilepsy as supplementation with serine may be beneficial.
{"title":"Case Report of 3-Phosphoglycerate Dehydrogenase Deficiency: A Baby with Severe Microcephaly, Psychomotor Delay, and Seizures","authors":"Hafizah Salleh, Nahin Hussain, B. Rai","doi":"10.1055/s-0041-1728646","DOIUrl":"https://doi.org/10.1055/s-0041-1728646","url":null,"abstract":"Abstract This is a case presentation of a patient with microcephaly, severe developmental delay, and refractory seizures who was found to have low levels of serum serine and glycine. Exome sequencing revealed a homozygous mutation in the 3-phosphoglycerate dehydrogenase deficiency (PHGDH) gene at chromosome 1p12. Cerebrospinal fluid (CSF) serine level was subsequently found to be low in keeping with the genetic diagnosis. L-glycine and L-serine supplements were started, which led to improvement in seizure burden. In this rare condition, seizure impact and psychomotor development can improve with supplementation of L-serine and L-glycine; therefore, timely diagnosis is crucial in the management of these patients. Our case also highlighted the role of molecular genetic testing in cases where CSF sampling is difficult, when there are typical clinical features of PHGDH. PHGDH is a rare disorder but should be considered in patients with microcephaly and refractory epilepsy as supplementation with serine may be beneficial.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"5 1","pages":"164 - 167"},"PeriodicalIF":0.2,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88406764","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}
G. Tantillo, N. Kagita, Maite LaVega-Talbott, Anuradha Singh, D. Kaufman
Abstract Norovirus is a common cause of acute gastroenteritis outbreaks worldwide. The disease can present with varying degrees of neurologic impairment from benign convulsions to rare cases of severe encephalopathy. In this article, we described a case report of a North American infant who presented with norovirus gastroenteritis, status epilepticus, severe encephalopathy, and abnormal but reversible diffusion restriction changes on magnetic resonance imaging of brain.
{"title":"Norovirus Causes Pediatric Encephalopathy and Status Epilepticus: A Case Report and Review of the Literature","authors":"G. Tantillo, N. Kagita, Maite LaVega-Talbott, Anuradha Singh, D. Kaufman","doi":"10.1055/s-0041-1725990","DOIUrl":"https://doi.org/10.1055/s-0041-1725990","url":null,"abstract":"Abstract Norovirus is a common cause of acute gastroenteritis outbreaks worldwide. The disease can present with varying degrees of neurologic impairment from benign convulsions to rare cases of severe encephalopathy. In this article, we described a case report of a North American infant who presented with norovirus gastroenteritis, status epilepticus, severe encephalopathy, and abnormal but reversible diffusion restriction changes on magnetic resonance imaging of brain.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"17 1","pages":"135 - 139"},"PeriodicalIF":0.2,"publicationDate":"2021-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82094469","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}
Loyane de Fátima Svierkovski, A. Stein, T. Cavazzotto, A. Paludo
Abstract The aim of this study was to review the literature about the effect of physical activity intervention in children and adolescents with epilepsy. Articles were searched in the central electronic databases of MEDLINE, Embase, PsycAriticles, and CINAHL for the following keywords: “epilepsy,” “seizure,” “physical activity,” “physical exercise,” “exercise therapy,” “sport,” using the Boolean operator “AND” and “OR.” The quality of the selected articles was evaluated by the Physiotherapy Evidence Database scale. Out of the 22 articles selected, 18 did not involve intervention or did not have pre- and postresults and therefore were excluded from the study. The remaining four were studies from Canada and Korea which comprised two long-period interventions and were included in the analysis. Both programs demonstrated a positive effect of physical activity on variables related to psychological well-being and cognitive function. All the four articles demonstrated a lower score of quality. In conclusion, reviewed studies suggest that physical exercise program induces some benefits in children and adolescents with epilepsy. However, the noncontrolled trials and the varied analyses (quantitative vs. qualitative) make it difficult to establish a consensus about benefits of physical activity in epilepsy.
{"title":"The Benefits of Physical Activity in Children and Adolescents with Epilepsy: A Systematic Review","authors":"Loyane de Fátima Svierkovski, A. Stein, T. Cavazzotto, A. Paludo","doi":"10.1055/s-0041-1725991","DOIUrl":"https://doi.org/10.1055/s-0041-1725991","url":null,"abstract":"Abstract The aim of this study was to review the literature about the effect of physical activity intervention in children and adolescents with epilepsy. Articles were searched in the central electronic databases of MEDLINE, Embase, PsycAriticles, and CINAHL for the following keywords: “epilepsy,” “seizure,” “physical activity,” “physical exercise,” “exercise therapy,” “sport,” using the Boolean operator “AND” and “OR.” The quality of the selected articles was evaluated by the Physiotherapy Evidence Database scale. Out of the 22 articles selected, 18 did not involve intervention or did not have pre- and postresults and therefore were excluded from the study. The remaining four were studies from Canada and Korea which comprised two long-period interventions and were included in the analysis. Both programs demonstrated a positive effect of physical activity on variables related to psychological well-being and cognitive function. All the four articles demonstrated a lower score of quality. In conclusion, reviewed studies suggest that physical exercise program induces some benefits in children and adolescents with epilepsy. However, the noncontrolled trials and the varied analyses (quantitative vs. qualitative) make it difficult to establish a consensus about benefits of physical activity in epilepsy.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"15 1","pages":"097 - 103"},"PeriodicalIF":0.2,"publicationDate":"2021-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91002528","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}
A. Bhandari, M. Gourie‐Devi, Praveen Kumar, L. Khanna
Abstract Musicogenic epilepsy is a relatively rare form of epilepsy characterized by seizures triggered by specific music experiences, with an estimated prevalence of 1/10,000,000 population. In this article, we reported a case of 12-year-old boy patient with a history of recent onset focal seizures associated with an aura of formed visual hallucinations, feeling of familiarity (déjà vu), and impending fear lasting for seconds to a minute followed by eye blinking, oral automatisms, and unresponsiveness for almost 15 minutes. These episodes, most often, were provoked by music. Video electroencephalogram (EEG) done in our institute was suggestive of reflex musicogenic epilepsy arising from the left anterior temporal lobe. Magnetic resonance imaging of the brain 3T with epilepsy protocol confirmed video EEG findings, with an abnormal signal intensity in the left hippocampal and mesial temporal lobe. Treatment included lifestyle modification and antiepileptic drugs.
{"title":"A Case of Musicogenic Epilepsy","authors":"A. Bhandari, M. Gourie‐Devi, Praveen Kumar, L. Khanna","doi":"10.1055/s-0041-1725993","DOIUrl":"https://doi.org/10.1055/s-0041-1725993","url":null,"abstract":"Abstract Musicogenic epilepsy is a relatively rare form of epilepsy characterized by seizures triggered by specific music experiences, with an estimated prevalence of 1/10,000,000 population. In this article, we reported a case of 12-year-old boy patient with a history of recent onset focal seizures associated with an aura of formed visual hallucinations, feeling of familiarity (déjà vu), and impending fear lasting for seconds to a minute followed by eye blinking, oral automatisms, and unresponsiveness for almost 15 minutes. These episodes, most often, were provoked by music. Video electroencephalogram (EEG) done in our institute was suggestive of reflex musicogenic epilepsy arising from the left anterior temporal lobe. Magnetic resonance imaging of the brain 3T with epilepsy protocol confirmed video EEG findings, with an abnormal signal intensity in the left hippocampal and mesial temporal lobe. Treatment included lifestyle modification and antiepileptic drugs.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"21 1","pages":"160 - 163"},"PeriodicalIF":0.2,"publicationDate":"2021-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73554370","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}
R. S. Badv, A. Ghamari, M. Ashrafi, Mahmoud Mohammadi, R. A. Malamiri, Morteza Heidari
Abstract Previously known as severe myoclonic epilepsy of infancy, Dravet syndrome is characterized by febrile or afebrile prolonged hemiconvulsive seizures or generalized status epilepticus in an infant with previously normal development. Immediate management of status epilepticus is critical in these patients. Early control of status epilepticus prevents further brain damage; however, there is no consensus regarding the management of status epilepticus in children with Dravet syndrome, as many conventional antiseizure medications that are recommended in the management of status epilepticus worsen the seizures in these patients. A 2.5-year-old girl child patient was referred due to status epilepticus which was refractory to antiseizure medications. Sodium valproate, nitrazepam, ketogenic diet, intravenous phenytoin, and midazolam continuous infusion were administered. After controlling status epilepticus, the probable diagnosis of Dravet syndrome was proposed and confirmed by a mutation in SCN1A. As previously stated in numerous case reports, phenytoin worsens seizures in patients with Dravet syndrome. Therefore, it seems logical that in every infant with status epilepticus and probable Dravet syndrome, the practicing physician considers administering intravenous valproate or even midazolam continuous infusion instead of intravenous phenytoin.
{"title":"Managing Status Epilepticus in a Child with Dravet Syndrome: How Difficult It Could Be?","authors":"R. S. Badv, A. Ghamari, M. Ashrafi, Mahmoud Mohammadi, R. A. Malamiri, Morteza Heidari","doi":"10.1055/s-0041-1723951","DOIUrl":"https://doi.org/10.1055/s-0041-1723951","url":null,"abstract":"Abstract Previously known as severe myoclonic epilepsy of infancy, Dravet syndrome is characterized by febrile or afebrile prolonged hemiconvulsive seizures or generalized status epilepticus in an infant with previously normal development. Immediate management of status epilepticus is critical in these patients. Early control of status epilepticus prevents further brain damage; however, there is no consensus regarding the management of status epilepticus in children with Dravet syndrome, as many conventional antiseizure medications that are recommended in the management of status epilepticus worsen the seizures in these patients. A 2.5-year-old girl child patient was referred due to status epilepticus which was refractory to antiseizure medications. Sodium valproate, nitrazepam, ketogenic diet, intravenous phenytoin, and midazolam continuous infusion were administered. After controlling status epilepticus, the probable diagnosis of Dravet syndrome was proposed and confirmed by a mutation in SCN1A. As previously stated in numerous case reports, phenytoin worsens seizures in patients with Dravet syndrome. Therefore, it seems logical that in every infant with status epilepticus and probable Dravet syndrome, the practicing physician considers administering intravenous valproate or even midazolam continuous infusion instead of intravenous phenytoin.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"50 1","pages":"128 - 134"},"PeriodicalIF":0.2,"publicationDate":"2021-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84623720","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 As early in 1935, Gibbs et al described electroencephalogram (EEG) features of large slow waves seen in “petit mal” seizures and change in background rhythm to a higher frequency, greater amplitude pattern in “grand mal” seizures. Studies have shown many typical EEG features in focal onset as well as generalized epilepsies.2 3 It is usually easy to delineate focal epilepsy cases when EEG onset of seizures is clear as seen in Benign focal epileptiform discharges of childhood.4 However, it is not uncommon to see cases where epileptiform discharges are not very clear. For example, there can be secondary bilateral synchrony or generalized onset of epileptiform discharges in some cases of focal epilepsy5 and nongeneralized EEG features is cases of generalized epilepsy like absence seizures.6 The awareness of occurrence of focal clinical and EEG features in generalized epilepsy is particularly important to help to select appropriate AEDs and also to avoid inappropriate consideration for epilepsy surgery.7 Lüders et al8 have shown that multiple factors like electroclinical seizure evolution, neuroimaging (both functional and anatomical) have to be analyzed in depth before defining an epileptic syndrome. Here, we are providing few examples of different situations where it is still mysterious to figure out focal onset seizures with secondary generalization versus primary generalized epilepsy.
{"title":"The Role and Controversies of Electroencephalogram in Focal versus Generalized Epilepsy","authors":"Shoba Jayaram, M. Alkhaldi, Asim M Shahid","doi":"10.1055/s-0041-1722869","DOIUrl":"https://doi.org/10.1055/s-0041-1722869","url":null,"abstract":"Abstract As early in 1935, Gibbs et al described electroencephalogram (EEG) features of large slow waves seen in “petit mal” seizures and change in background rhythm to a higher frequency, greater amplitude pattern in “grand mal” seizures. Studies have shown many typical EEG features in focal onset as well as generalized epilepsies.2 3 It is usually easy to delineate focal epilepsy cases when EEG onset of seizures is clear as seen in Benign focal epileptiform discharges of childhood.4 However, it is not uncommon to see cases where epileptiform discharges are not very clear. For example, there can be secondary bilateral synchrony or generalized onset of epileptiform discharges in some cases of focal epilepsy5 and nongeneralized EEG features is cases of generalized epilepsy like absence seizures.6 The awareness of occurrence of focal clinical and EEG features in generalized epilepsy is particularly important to help to select appropriate AEDs and also to avoid inappropriate consideration for epilepsy surgery.7 Lüders et al8 have shown that multiple factors like electroclinical seizure evolution, neuroimaging (both functional and anatomical) have to be analyzed in depth before defining an epileptic syndrome. Here, we are providing few examples of different situations where it is still mysterious to figure out focal onset seizures with secondary generalization versus primary generalized epilepsy.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"10 1","pages":"058 - 064"},"PeriodicalIF":0.2,"publicationDate":"2021-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85893677","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}
Francesca Marchese, Elena Faedo, M. Vari, P. Bergonzini, M. Iacomino, A. Guerra, L. Franceschetti, A. Baroni, P. Scudieri, C. Minetti, P. Striano
Abstract Aromatic L-amino acid decarboxylase (AADC) deficiency is an autosomal recessive metabolic disorder resulting from disease-causing pathogenic variants of the dopa decarboxylase (DDC) gene. The neurological features of AADC deficiency include early-onset hypotonia, oculogyric crises, ptosis, dystonia, hypokinesia, impaired development, and autonomic dysfunction. In this article, we reported a patient with genetically confirmed AADC deficiency presenting with developmental epileptic encephalopathy (DEE). Our patient was a boy with severe intractable epileptic spasms and DEE. The patient was evaluated for cognitive and neurologic impairment. Exome sequencing revealed a homozygous mutation (NM_000790.4:c.121C > A; p.Leu41Met) in the DDC gene. This case expands the clinical spectrum of AADC deficiency and strengthens the association between dopa decarboxylase deficiency and epilepsy. Additional studies are warranted to clarify the mechanisms linking dopa decarboxylase dysfunction to DEE.
{"title":"Atypical Presentation of Aromatic L-Amino Acid Decarboxylase Deficiency with Developmental Epileptic Encephalopathy","authors":"Francesca Marchese, Elena Faedo, M. Vari, P. Bergonzini, M. Iacomino, A. Guerra, L. Franceschetti, A. Baroni, P. Scudieri, C. Minetti, P. Striano","doi":"10.1055/s-0041-1723768","DOIUrl":"https://doi.org/10.1055/s-0041-1723768","url":null,"abstract":"Abstract Aromatic L-amino acid decarboxylase (AADC) deficiency is an autosomal recessive metabolic disorder resulting from disease-causing pathogenic variants of the dopa decarboxylase (DDC) gene. The neurological features of AADC deficiency include early-onset hypotonia, oculogyric crises, ptosis, dystonia, hypokinesia, impaired development, and autonomic dysfunction. In this article, we reported a patient with genetically confirmed AADC deficiency presenting with developmental epileptic encephalopathy (DEE). Our patient was a boy with severe intractable epileptic spasms and DEE. The patient was evaluated for cognitive and neurologic impairment. Exome sequencing revealed a homozygous mutation (NM_000790.4:c.121C > A; p.Leu41Met) in the DDC gene. This case expands the clinical spectrum of AADC deficiency and strengthens the association between dopa decarboxylase deficiency and epilepsy. Additional studies are warranted to clarify the mechanisms linking dopa decarboxylase dysfunction to DEE.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"88 1","pages":"124 - 127"},"PeriodicalIF":0.2,"publicationDate":"2021-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76259096","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 About 70% of children with new-onset epilepsy have the potential to become seizure-free on antiepileptic drug (AED) monotherapy with appropriately selected first-line medication. In ideal world, physician is expected to achieve best possible seizure control without impacting the quality of life. There is rapid increase in number of AEDs available over last couple of decades. Although not necessarily all of them are superior to old generation drugs in terms of seizure control, certainly there is change in landscape from perspective of tolerability and side-effect profile. Physicians must therefore be familiar with safety, tolerability, therapeutic effects, synergistic combinations as well as AEDs to avoid in specific circumstances. The article attempts to give general overview of available AEDs under broad umbrella of effectiveness against focal and generalized seizures as well as drugs with “broad spectrum.” The emergence of newer AEDs with broad spectrum and favorable side-effect profile is welcome. However, the future lies in better understanding of underlying diverse pathophysiology of clinical symptom “epilepsy” and developing new compounds acting on molecular targets as well as individualizing therapy. Technological advances in molecular genetics research are bringing precision medicine to the fore.
{"title":"Medical Management in Focal versus Generalized Epilepsy","authors":"Kumar Sannagowdara, N. Khan","doi":"10.1055/s-0040-1722297","DOIUrl":"https://doi.org/10.1055/s-0040-1722297","url":null,"abstract":"Abstract About 70% of children with new-onset epilepsy have the potential to become seizure-free on antiepileptic drug (AED) monotherapy with appropriately selected first-line medication. In ideal world, physician is expected to achieve best possible seizure control without impacting the quality of life. There is rapid increase in number of AEDs available over last couple of decades. Although not necessarily all of them are superior to old generation drugs in terms of seizure control, certainly there is change in landscape from perspective of tolerability and side-effect profile. Physicians must therefore be familiar with safety, tolerability, therapeutic effects, synergistic combinations as well as AEDs to avoid in specific circumstances. The article attempts to give general overview of available AEDs under broad umbrella of effectiveness against focal and generalized seizures as well as drugs with “broad spectrum.” The emergence of newer AEDs with broad spectrum and favorable side-effect profile is welcome. However, the future lies in better understanding of underlying diverse pathophysiology of clinical symptom “epilepsy” and developing new compounds acting on molecular targets as well as individualizing therapy. Technological advances in molecular genetics research are bringing precision medicine to the fore.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"14 1","pages":"081 - 087"},"PeriodicalIF":0.2,"publicationDate":"2021-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88453563","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}
R. Assadsangabi, A. Ozturk, Trishna Kantamneni, Nazarin Azizi, S. Asaikar, L. Hacein-Bey
Abstract Neuroimaging plays an increasingly crucial role in delineating the pathophysiology, and guiding the evaluation, management and monitoring of epilepsy. Imaging contributes to adequately categorizing seizure/epilepsy types in complex clinical situations by demonstrating anatomical and functional changes associated with seizure activity. This article reviews the current status of multimodality neuroimaging in the pediatric population, including focal lesions which may result in focal epileptic findings, focal structural abnormalities that may manifest as generalized epileptiform discharges, and generalized epilepsy without evidence of detectable focal abnormalities.
{"title":"Neuroimaging of Childhood Epilepsy: Focal versus Generalized Epilepsy","authors":"R. Assadsangabi, A. Ozturk, Trishna Kantamneni, Nazarin Azizi, S. Asaikar, L. Hacein-Bey","doi":"10.1055/s-0040-1722301","DOIUrl":"https://doi.org/10.1055/s-0040-1722301","url":null,"abstract":"Abstract Neuroimaging plays an increasingly crucial role in delineating the pathophysiology, and guiding the evaluation, management and monitoring of epilepsy. Imaging contributes to adequately categorizing seizure/epilepsy types in complex clinical situations by demonstrating anatomical and functional changes associated with seizure activity. This article reviews the current status of multimodality neuroimaging in the pediatric population, including focal lesions which may result in focal epileptic findings, focal structural abnormalities that may manifest as generalized epileptiform discharges, and generalized epilepsy without evidence of detectable focal abnormalities.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"7 1","pages":"065 - 080"},"PeriodicalIF":0.2,"publicationDate":"2021-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74496446","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 impressive advances in the several disciplines including neurophysiology, molecular biology, neuroimmunology, neurogenetics, neuroimaging, and neuropharmacology of epilepsies have been stimulating a mutual interaction among basic scientists, clinicians, and professionals from other disciplines, leading to the identification of clinical questions and then the design of basic science paradigms to test enigmatic clinical issues. Based on a clinical observation that the coexistence of genetic (idiopathic) generalized typical absence and mesial temporal lobe epilepsy in the same patient is extremely rare and debatable, we addressed the rare coexistence in the same individual, designed an experimental approach to test the validity of this clinical concept and to study the underlying mechanisms involved. Here we presented evidence of a mutual cross-interaction in the circuits involved in typical absence and temporal lobe epilepsy. This article delineates a phenomenological picture and comprehends a theoretical understanding of a mutual cross-interaction in typical absence as a representative of genetic generalized epilepsies and limbic epilepsy in which seizures often start from the mesial temporal lobe.
{"title":"Are Absence and Limbic Seizures Mutually Exclusive?: An Experimental Approach to Enigmatic Clinical Concept","authors":"F. Onat, E. Eşkazan","doi":"10.1055/s-0041-1722870","DOIUrl":"https://doi.org/10.1055/s-0041-1722870","url":null,"abstract":"Abstract The impressive advances in the several disciplines including neurophysiology, molecular biology, neuroimmunology, neurogenetics, neuroimaging, and neuropharmacology of epilepsies have been stimulating a mutual interaction among basic scientists, clinicians, and professionals from other disciplines, leading to the identification of clinical questions and then the design of basic science paradigms to test enigmatic clinical issues. Based on a clinical observation that the coexistence of genetic (idiopathic) generalized typical absence and mesial temporal lobe epilepsy in the same patient is extremely rare and debatable, we addressed the rare coexistence in the same individual, designed an experimental approach to test the validity of this clinical concept and to study the underlying mechanisms involved. Here we presented evidence of a mutual cross-interaction in the circuits involved in typical absence and temporal lobe epilepsy. This article delineates a phenomenological picture and comprehends a theoretical understanding of a mutual cross-interaction in typical absence as a representative of genetic generalized epilepsies and limbic epilepsy in which seizures often start from the mesial temporal lobe.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"188 1","pages":"045 - 050"},"PeriodicalIF":0.2,"publicationDate":"2021-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79427608","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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