Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 150
Filtrar
1.
PCN Rep ; 3(2): e193, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38868085

RESUMO

Aim: The influence of surgeries on psychiatric symptoms and personality traits is not well known in patients with intractable temporal lobe epilepsy (TLE). We investigated changes in personality traits with respect to postoperative seizure outcomes, etiology, side of surgery, and sex differences. Methods: Clinical information was retrospectively collected for 44 patients whose Minnesota Multiphasic Personality Inventory (MMPI) was examined before and 1 year after surgical treatment for drug-resistant TLE. Postoperative changes in MMPI T-scores were analyzed using a paired t-test. Participants were divided into two groups based on postoperative seizure outcome, the presence or absence of hippocampal sclerosis (HS) as the etiology, side of surgery, and sex differences. The effect of these clinical factors on postoperative changes in MMPI T-scores was evaluated using analysis of covariance (P-values < 0.05). Results: The hypochondria (Hs) scale decreased significantly in all patients (p = 0.022). The postoperative seizure-free group had a significant decrease in the depression (D) scale (p = 0.037). The HS group had significant decreases in the D scale and the hysteria (Hy) scale (p = 0.016 and 0.004, respectively), and a significant increase in the masculinity-femininity (Mf) scale (p = 0.009). No significant differences existed between the sides of surgery or sex. Conclusion: Depressive traits were improved in patients with postoperative seizure freedom. Depressive and hysterical traits were improved in patients with HS, which may be attributed to a reduction in anxiety and fear associated with aura. Most personality traits are not significantly changed or exacerbated by surgical treatment of TLE.

2.
Seizure ; 120: 5-11, 2024 Jun 11.
Artigo em Inglês | MEDLINE | ID: mdl-38880019

RESUMO

OBJECTIVE: To elucidate the patient's journey to epilepsy surgery and identify the risk factors contributing to surgical delay in pediatric patients with drug-resistant epilepsy (DRE) due to focal cortical dysplasia (FCD). METHODS: A retrospective review was conducted of 93 pediatric patients who underwent curative epilepsy surgery for FCD between January 2012 and March 2023 at a tertiary epilepsy center. The Odyssey plot demonstrated the treatment process before epilepsy surgery, including key milestones of epilepsy onset, first hospital visit, epilepsy diagnosis, MRI diagnosis, DRE diagnosis, and surgery. The primary outcome was surgical delay; the duration from DRE to surgery. Multivariate linear regression models were used to examine the association between surgical delay and clinical, investigative, and treatment characteristics. RESULTS: The median age at seizure onset was 1.3 years (interquartile range [IQR] 0.14-3.1), and at the time of surgery, it was 6 years (range 1-11). Notably, 46% experienced surgical delays exceeding two years. The Odyssey plot visually highlighted that surgical delay comprised a significant portion of the patient journey. Although most patients underwent MRI before referral, MRI abnormalities were identified before referral only in 39% of the prolonged group, compared to 70% of the non-prolonged group. Multivariate analyses showed that delayed notification of MRI abnormalities, longer duration from epilepsy onset to DRE, older age at onset, number of antiseizure medications tried, and moderate to severe intellectual disability were significantly associated with prolonged surgical delay. CONCLUSION: Pediatric DRE patients with FCD experienced a long journey until surgery. Early and accurate identification of MRI abnormalities is important to minimize surgical delays.

3.
No Shinkei Geka ; 52(3): 619-629, 2024 May.
Artigo em Japonês | MEDLINE | ID: mdl-38783505

RESUMO

The efficacy of deep brain stimulation(DBS)for Tourette's syndrome is being well established. Herein, we performed DBS in 38 patients and confirmed that its efficacy was comparable with that reported internationally. Although many patients experience severe symptoms, the indications for surgery remain controversial. One reason for this is that Tourette syndrome has the potential for spontaneous remission, while DBS treatment results in the need for long-term management, which can be difficult for some patients. Furthermore, while several targets for DBS have been reported, no treatment guidelines have yet been established. The efficacy of DBS for neuropsychiatric disorders, such as obsessive-compulsive disorder, depression, and dementia, is gradually being reported. However, this use has many limitations in terms of expectations similar to those seen with Tourette's syndrome, leading to problems with expanding indications for these disorders. Indications for these disorders should be addressed in conjunction with ethical issues. It is expected that more data on this topic will be collected in the future.


Assuntos
Estimulação Encefálica Profunda , Síndrome de Tourette , Humanos , Síndrome de Tourette/terapia , Adulto , Masculino , Feminino , Transtornos Mentais/terapia , Transtorno Obsessivo-Compulsivo/terapia , Pessoa de Meia-Idade , Resultado do Tratamento , Adolescente , Idoso
4.
Epilepsy Behav Rep ; 26: 100674, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38764719

RESUMO

Mild malformation of cortical development with oligodendroglial hyperplasia (MOGHE) is a recently proposed epileptogenic entity that is difficult to detect on MRI. We present a case of MOGHE that was successfully detected on T1WI-chemical shift-selective saturation (CHESS) MRI. The clinical presentation, MRI including T1WI-CHESS, functional images, and pathology findings of a 14-year-old Japanese girl diagnosed with MOGHE are described. T1WI-CHESS revealed an abnormal high signal along the affected lesion, whereas the findings shown by the other MR sequences were less obvious; interictal fluorodeoxyglucose-positron emission tomography indicated slightly decreased accumulation in the lesion, and subtraction ictal single photon emission computed tomography co-registered to MRI showed an increased blood flow. Together these observations suggest that T1WI-CHESS may be a useful MR sequence for detecting the lesions in patients with MOGHE.

5.
Nat Hum Behav ; 8(3): 404-405, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38297063
6.
Genes Cells ; 29(3): 192-206, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38269481

RESUMO

Low-grade neuroepithelial tumors are major causes of drug-resistant focal epilepsy. Clinically, these tumors are defined as low-grade epilepsy-associated neuroepithelial tumors (LEATs). The BRAF V600E mutation is frequently observed in LEAT and linked to poor seizure outcomes. However, its molecular role in epileptogenicity remains elusive. To understand the molecular mechanism underlying the epileptogenicity in LEAT with the BRAF V600E genetic mutation (BRAF V600E-LEAT), we conducted RNA sequencing (RNA-seq) analysis using surgical specimens of BRAF V600E-LEAT obtained and stored at a single institute. We obtained 21 BRAF V600E-LEAT specimens and 4 control specimens, including 24 from Japanese patients and 1 from a patient of Central Asian origin, along with comprehensive clinical data. We submitted the transcriptome dataset of 21 BRAF V600E-LEAT plus 4 controls, as well as detailed clinical information, to a public database. Preliminary bioinformatics analysis using this dataset identified 2134 differentially expressed genes between BRAF V600E-LEAT and control. Additionally, gene set enrichment analysis provided novel insights into the association between estrogen response-related pathways and the epileptogenicity of BRAF V600E-LEAT patients. Our datasets and findings will contribute toward the understanding of the pathology of epilepsy caused by LEAT and the identification of new therapeutic targets.


Assuntos
Neoplasias Encefálicas , Epilepsia , Neoplasias Neuroepiteliomatosas , Humanos , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/cirurgia , Proteínas Proto-Oncogênicas B-raf/genética , Proteínas Proto-Oncogênicas B-raf/metabolismo , Epilepsia/genética , Epilepsia/complicações , Neoplasias Neuroepiteliomatosas/genética , Neoplasias Neuroepiteliomatosas/metabolismo , Neoplasias Neuroepiteliomatosas/patologia , Transcriptoma , Mutação
7.
J Neurosurg Pediatr ; 33(3): 193-198, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38157528

RESUMO

OBJECTIVE: Hemispherotomy is an effective treatment for intractable hemispheric epilepsy; however, hydrocephalus remains a common complication of the procedure. The causes of hydrocephalus following hemispherotomy have not been fully elucidated; therefore, the purpose of this study was to identify the risk factors associated with the condition. METHODS: The authors investigated the records of all patients aged < 18 years who underwent hemispherotomy at their institution between 2003 and 2020 and were monitored for hydrocephalus for at least 1 year after the procedure. To identify the risk factors for hydrocephalus, the following information about each patient was collected: sex, corrected age at surgery, body weight at surgery, previous intracranial surgery, etiology of epilepsy, results of PET for hypermetabolism, side of surgery, type of operation (vertical or horizontal approach), operation time, blood loss during surgery, use of intraventricular drainage, occurrence of intraventricular hemorrhage (IVH) on the 1st postoperative day, duration of postoperative fever of > 38°C, and maximum C-reactive protein level after the operation. Multivariate logistic regression analyses were performed. RESULTS: This study included 51 children who underwent hemispherotomies for drug-resistant epilepsy at our hospital. Seven patients (13.7%) experienced hydrocephalus and were treated with ventricular or subdural peritoneal shunts or fenestration. Multivariate logistic analysis using the Bayesian information criterion revealed that 3 factors were associated with the occurrence of hydrocephalus: age at surgery, postoperative IVH volume, and duration of postoperative fever of > 38°C. CONCLUSIONS: This study showed that younger age at surgery, postoperative IVH volume, and duration of postoperative fever of > 38°C might be risk factors for hydrocephalus after hemispherotomy. The risk of hydrocephalus should be considered in cases of early surgical indication in children. Intraoperative hemostasis and postoperative use of anti-inflammatory measures may reduce the risk of hydrocephalus.


Assuntos
Epilepsia Resistente a Medicamentos , Hidrocefalia , Criança , Humanos , Teorema de Bayes , Fatores de Risco , Hemorragia Cerebral , Epilepsia Resistente a Medicamentos/diagnóstico por imagem , Epilepsia Resistente a Medicamentos/etiologia , Epilepsia Resistente a Medicamentos/cirurgia , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/etiologia , Hidrocefalia/cirurgia
8.
Oper Neurosurg (Hagerstown) ; 25(6): e308-e314, 2023 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-37966479

RESUMO

BACKGROUND AND OBJECTIVES: Insulo-opercular surgery can cause ischemic motor complications. A source of this is the arteries around the superior limiting sulcus (SLS), which reach the corona radiata, but the detailed anatomy remains unclear. To characterize arteries around the SLS including the long insular arteries (LIAs) and long medullary arteries, we classified them and examined their distribution in relation to the SLS, which helps reduce the risk of ischemia. METHODS: Twenty adult cadaveric hemispheres were studied. Coronal brain slices were created perpendicular to the SLS representing insular gyri (anterior short, middle short, posterior short, anterior long, and posterior long). The arteries within 10-mm proximity of the SLS that reached the corona radiata were excavated and classified by the entry point. RESULTS: A total of 122 arteries were identified. Sixty-three (52%), 20 (16%), and 39 (32%) arteries penetrated the insula (LIAs), peak of the SLS, and operculum (long medullary arteries), respectively. 100 and six (87%) arteries penetrated within 5 mm of the peak of the SLS. The arteries were distributed in the anterior short gyrus (19%), middle short gyrus (17%), posterior short gyrus (20%), anterior long gyrus (19%), and posterior long gyrus (25%). Seven arteries (5.7%) had anastomoses after they penetrated the parenchyma. CONCLUSION: Approximately 90% of the arteries that entered the parenchyma and reached the corona radiata were within a 5-mm radius of the SLS in both the insula and operculum side. This suggests that using the SLS as a landmark during insulo-opercular surgery can decrease the chance of ischemia.


Assuntos
Encéfalo , Artéria Cerebral Média , Adulto , Humanos , Extremidade Superior , Isquemia
9.
Clin Neurophysiol ; 156: 69-75, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37890232

RESUMO

OBJECTIVE: To clarify whether preoperative language magnetoencephalography (MEG) predicts postoperative verbal memory (VM) changes in left mesial temporal lobe epilepsy (LMTLE). METHODS: We reviewed 18 right-handed patients with LMTLE who underwent anterior temporal lobectomy or selective amygdala hippocampectomy, 12 with (HS+) and 6 without hippocampal sclerosis (HS-). Patients underwent neuropsychological assessment before and after surgery. MEG was measured with an auditory verbal learning task in patients preoperatively and in 15 right-handed controls. Dynamic statistical parametric mapping (dSPM) was used for source imaging of task-related activity. Language laterality index (LI) was calculated by z-score of dSPM in language-related regions. LI in the region of HS+ and HS- was compared to controls. The correlation between LI and postoperative VM change was assessed in HS+ and HS-. RESULTS: Preoperative LI in supramarginal gyrus showed greater right-shifted lateralization in both HS+ and HS- than in controls. Right-shifted LI in supramarginal gyrus was correlated with postoperative VM increase in HS+ (p = 0.019), but not in HS-. CONCLUSIONS: Right-shifted language lateralization in dSPM of MEG signals may predict favorable VM outcome in HS+ of LMTLE. SIGNIFICANCE: Findings warrant further investigation of the relation between regional language laterality index and postoperative verbal memory changes.


Assuntos
Epilepsia do Lobo Temporal , Epilepsia , Humanos , Epilepsia do Lobo Temporal/diagnóstico por imagem , Epilepsia do Lobo Temporal/cirurgia , Magnetoencefalografia , Memória/fisiologia , Lobo Temporal , Idioma , Testes Neuropsicológicos , Lateralidade Funcional/fisiologia , Imageamento por Ressonância Magnética , Hipocampo/diagnóstico por imagem , Hipocampo/cirurgia
10.
Epilepsia ; 64(12): 3205-3212, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37823366

RESUMO

OBJECTIVE: Lennox-Gastaut syndrome (LGS) is a severe form of epileptic encephalopathy, presenting during the first years of life, and is very resistant to treatment. Once medical therapy has failed, palliative surgeries such as vagus nerve stimulation (VNS) or corpus callosotomy (CC) are considered. Although CC is more effective than VNS as the primary neurosurgical treatment for LGS-associated drop attacks, there are limited data regarding the added value of CC following VNS. This study aimed to assess the effectiveness of CC preceded by VNS. METHODS: This multinational, multicenter retrospective study focuses on LGS children who underwent CC before the age of 18 years, following prior VNS, which failed to achieve satisfactory seizure control. Collected data included epilepsy characteristics, surgical details, epilepsy outcomes, and complications. The primary outcome of this study was a 50% reduction in drop attacks. RESULTS: A total of 127 cases were reviewed (80 males). The median age at epilepsy onset was 6 months (interquartile range [IQR] = 3.12-22.75). The median age at VNS surgery was 7 years (IQR = 4-10), and CC was performed at a median age of 11 years (IQR = 8.76-15). The dominant seizure type was drop attacks (tonic or atonic) in 102 patients. Eighty-six patients underwent a single-stage complete CC, and 41 an anterior callosotomy. Ten patients who did not initially have a complete CC underwent a second surgery for completion of CC due to seizure persistence. Overall, there was at least a 50% reduction in drop attacks and other seizures in 83% and 60%, respectively. Permanent morbidity occurred in 1.5%, with no mortality. SIGNIFICANCE: CC is vital in seizure control in children with LGS in whom VNS has failed. Surgical risks are low. A complete CC has a tendency toward better effectiveness than anterior CC for some seizure types.


Assuntos
Epilepsia , Síndrome de Lennox-Gastaut , Estimulação do Nervo Vago , Criança , Masculino , Humanos , Lactente , Pré-Escolar , Adolescente , Síndrome de Lennox-Gastaut/cirurgia , Estudos Retrospectivos , Corpo Caloso/cirurgia , Convulsões/terapia , Síncope , Resultado do Tratamento , Nervo Vago
11.
Epilepsia ; 64(12): 3294-3306, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37905469

RESUMO

OBJECTIVE: Ictal direct current shifts (icDCs) and ictal high-frequency oscillations (icHFOs) have been reported as surrogate markers for better surgical outcomes in epilepsy surgery. icDCs have been classified into two types: rapid and slow development. icDCs have been investigated with a time constant of 10 s (TC10s); however, many institutes use electroencephalography with a time constant of 2 s (TC2s). This study aimed to evaluate whether icDCs can be observed adequately with TC2s; moreover, it examined the relationship between the resected core area of icDCs or icHFOs and surgical outcomes, occurrence rate of each type of icDCs, and relationship between each type of icDCs and pathology. METHODS: Twenty-five patients with intractable focal epilepsy were analyzed retrospectively. icDCs and icHFOs were defined according to common metrics. The amplitude of icDCs was defined at >200 µV and even <200 µV. The two electrodes producing the most prominent icDCs and icHFOs were defined as core electrodes. The correlation between the resected core electrode area and degree of seizure control after surgery was analyzed. icDCs were classified into two types based on a peak latency value cutoff of 8.9 s, and the occurrence rates of both patterns were investigated. RESULTS: icDCs (142/147 seizures [96.6%]) and icHFOs (135/147 seizures [91.8%]) occurred in all patients (100%). Compared with the amplitude of icDCs with TC10s reported in previous studies, the amplitude of icDCs with TC2s was attenuated in the current study. A significant positive correlation was observed between the resected core electrode area and degree of seizure control in both icDCs and icHFOs. A rapid development pattern was observed in 202 of 264 electrodes (76.5%). SIGNIFICANCE: Similar to icDCs with TC10s, those with TC2s were observed adequately. Furthermore, favorable outcomes are expected using TC2s, which is currently available worldwide.


Assuntos
Epilepsia Resistente a Medicamentos , Epilepsias Parciais , Epilepsia , Humanos , Estudos Retrospectivos , Epilepsia/cirurgia , Epilepsia/patologia , Convulsões/cirurgia , Epilepsias Parciais/cirurgia , Eletroencefalografia
12.
Brain Nerve ; 75(9): 999-1003, 2023 Sep.
Artigo em Japonês | MEDLINE | ID: mdl-37691240

RESUMO

In women with epilepsy, antiepileptic drugs with low teratogenic risk should be used at the lowest dose necessary to control seizures. The medication adjustment and folic acid supplementation are started before pregnancy. Valproic acid should be avoided unless indispensable. Levetiracetam and lamotrigine are often used as less teratogenic agents. Moreover, appropriate information on possible changes in seizure frequency with pregnancy and childbirth preparation and breastfeeding should be provided. Generally, women taking antiepileptic drugs for epilepsy treatment may undergo natural delivery and breastfeeding. We should collaborate with obstetricians and other professionals to help ensure a safe environment for pregnancy and childbirth.


Assuntos
Anticonvulsivantes , Epilepsia , Gravidez , Feminino , Humanos , Anticonvulsivantes/efeitos adversos , Epilepsia/tratamento farmacológico , Convulsões , Ácido Valproico , Levetiracetam/uso terapêutico
13.
Epilepsia Open ; 8(4): 1369-1382, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37547978

RESUMO

OBJECTIVE: Perampanel is an oral anti-seizure medication, which is approved in Japan for focal-onset seizures, with/without focal to bilateral tonic-clonic seizures, as monotherapy/adjunctive therapy in patients aged 4 years and older. Treatment for generalized tonic-clonic seizures as adjunctive therapy in patients aged 12 years and older is approved as well. We evaluated the feasibility of intravenous (IV) administration of perampanel as an alternative to oral administration. METHODS: Study 240 (NCT03754582) was an uncontrolled, open-label study of IV perampanel, conducted in 21 Japanese patients with epilepsy who received a stable dose of 8-12 mg/day of oral perampanel. Patients received 30-minute IV infusions at equivalent daily doses of oral perampanel for 4 days, then were switched back to oral perampanel. Safety, tolerability, plasma concentration, and maintenance of efficacy throughout the transition between IV and oral dosing of perampanel were assessed. As supportive data, a subgroup analysis was also conducted using data from healthy Japanese subjects (n = 18) who were enrolled in Study 050 (NCT03376997) investigating the pharmacokinetics and safety of IV perampanel in healthy subjects who received an IV infusion (30-, 60-, or 90-minute) of perampanel 12 mg and a single oral administration of perampanel 12-mg tablet. RESULTS: In Study 240, the transition between 30-minute IV and oral perampanel dosing was associated with a ≤1.4-fold increase in the mean change in maximum observed concentration of perampanel. Seizure outcomes demonstrated no considerable changes in efficacy before, during, or after 30-minute IV dosing of perampanel. The safety profiles were similar between IV and oral formulations. In Study 050, the pharmacokinetics of 30- or 60-minute IV infusion of perampanel further support the interchangeability between oral and IV formulations in the Japanese subjects. SIGNIFICANCE: These results support that 30-minute IV perampanel may be a potential short-term alternative to oral formulations for patients with epilepsy.


Assuntos
Anticonvulsivantes , População do Leste Asiático , Epilepsia , Humanos , Anticonvulsivantes/administração & dosagem , Epilepsia/tratamento farmacológico , Resultado do Tratamento , Administração Intravenosa
14.
J Neuroimaging ; 33(5): 731-736, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37355835

RESUMO

BACKGROUND AND PURPOSE: Subcortical band heterotopia (SBH) is a malformation of cortical development diagnosed via MRI. Currently, patients with SBH are classified according to Di Donato's classification. We aimed to show a variation of SBH and the usefulness of double inversion recovery (DIR) images. METHODS: We retrospectively reviewed the MRI findings of 28 patients with SBH. The patients were classified according to Donato's classification by using conventional MR images, and their DIR findings were reviewed. RESULTS: Of 28 patients, 20 were grade 1 and 8 were grade 2 according to Di Donato's classification. In 15 of 28 patients, the following four types of atypical MRI findings were detected: asymmetry distribution (four cases), coexistence of thin and thick SBH (five cases), and DIR faint abnormal signal intensity in subcortical white matter (five cases) and in deep white matter (five cases). The latter two types were detected on DIR alone and have not been reported. Additionally, these were identified only in the mild group (Di Donato's classification 1-1 or 1-2). CONCLUSION: DIR is a useful MRI sequence for detecting faint white matter signal abnormalities, and it can aid in the accurate classification of SBH and identification of its variations, which may reflect the pathology of SBH.


Assuntos
Lissencefalias Clássicas e Heterotopias Subcorticais em Banda , Humanos , Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/diagnóstico por imagem , Estudos Retrospectivos , Imageamento por Ressonância Magnética/métodos
15.
Brain Nerve ; 75(4): 341-345, 2023 Apr.
Artigo em Japonês | MEDLINE | ID: mdl-37037505

RESUMO

Drug-resistant epilepsy is defined when epileptic seizures are not controlled for over a year despite adequate use of two or more anti-epileptic drugs. Patients with drug-resistant epilepsy should be referred to a specialized epilepsy center without delay. The epilepsy centers provide long-term video-EEG monitoring and epilepsy surgery as essential medical functions. The diagnosis and treatment of epilepsy are reviewed through an interdisciplinary care team approach. A surgical indication is discussed and determined after a comprehensive evaluation of patients with drug-resistant epilepsy. The number of epilepsy surgeries performed per population in Japan is approximately 40% of that in the United States. However, the number of epilepsy centers and the number of video-EEGs performed remain low. It is expected to facilitate patients' access to specialized care in Japan.


Assuntos
Epilepsia , Convulsões , Humanos , Convulsões/diagnóstico , Epilepsia/diagnóstico , Epilepsia/tratamento farmacológico , Eletroencefalografia , Diagnóstico Diferencial , Japão
16.
Cell Rep Med ; 4(5): 101020, 2023 05 16.
Artigo em Inglês | MEDLINE | ID: mdl-37080205

RESUMO

The excitatory glutamate α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptors (AMPARs) contribute to epileptogenesis. Thirty patients with epilepsy and 31 healthy controls are scanned using positron emission tomography with our recently developed radiotracer for AMPARs, [11C]K-2, which measures the density of cell-surface AMPARs. In patients with focal-onset seizures, an increase in AMPAR trafficking augments the amplitude of abnormal gamma activity detected by electroencephalography. In contrast, patients with generalized-onset seizures exhibit a decrease in AMPARs coupled with increased amplitude of abnormal gamma activity. Patients with epilepsy had reduced AMPAR levels compared with healthy controls, and AMPARs are reduced in larger areas of the cortex in patients with generalized-onset seizures compared with those with focal-onset seizures. Thus, epileptic brain function can be regulated by the enhanced trafficking of AMPAR due to Hebbian plasticity with increased simultaneous neuronal firing and compensational downregulation of cell-surface AMPARs by the synaptic scaling.


Assuntos
Epilepsia , Receptores de AMPA , Humanos , Receptores de AMPA/fisiologia , Neurônios , Convulsões
17.
Clin Neurophysiol ; 150: 17-30, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36989866

RESUMO

OBJECTIVE: To determine how sevoflurane anesthesia modulates intraoperative epilepsy biomarkers on electrocorticography, including high-frequency oscillation (HFO) effective connectivity (EC), and to investigate their relation to epileptogenicity and anatomical white matter. METHODS: We studied eight pediatric drug-resistant focal epilepsy patients who achieved seizure control after invasive monitoring and resective surgery. We visualized spatial distributions of the electrocorticography biomarkers at an oxygen baseline, three time-points while sevoflurane was increasing, and at a plateau of 2 minimum alveolar concentration (MAC) sevoflurane. HFO EC was combined with diffusion-weighted imaging, in dynamic tractography. RESULTS: Intraoperative HFO EC diffusely increased as a function of sevoflurane concentration, although most in epileptogenic sites (defined as those included in the resection); their ability to classify epileptogenicity was optimized at sevoflurane 2 MAC. HFO EC could be visualized on major white matter tracts, as a function of sevoflurane level. CONCLUSIONS: The results strengthened the hypothesis that sevoflurane-activated HFO biomarkers may help intraoperatively localize the epileptogenic zone. SIGNIFICANCE: Our results help characterize how HFOs at non-epileptogenic and epileptogenic networks respond to sevoflurane. It may be warranted to establish a normative HFO atlas incorporating the modifying effects of sevoflurane and major white matter pathways, as critical reference in epilepsy presurgical evaluation.


Assuntos
Epilepsia Resistente a Medicamentos , Epilepsia , Humanos , Criança , Sevoflurano/efeitos adversos , Epilepsia/diagnóstico por imagem , Epilepsia/cirurgia , Encéfalo , Eletrocorticografia/métodos , Convulsões , Epilepsia Resistente a Medicamentos/diagnóstico por imagem , Epilepsia Resistente a Medicamentos/cirurgia , Eletroencefalografia/métodos
18.
Epilepsia Open ; 8(2): 651-658, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36740266

RESUMO

Suppression-burst (SB) is an electroencephalographic pattern observed in neonatal- and infantile-onset developmental and epileptic encephalopathies (DEEs), which are associated with high mortality in early life. However, the relation of SB electroencephalogram (SB-EEG) with autonomic function requires clarification. We investigated the relationship between heart rate (HR) and phasic transition during SB-EEG in DEEs to explore the mechanism of early death. Seven patients (two with KCNT1-DEE) with neonatal- and infantile-onset DEE who presented with SB-EEG were retrospectively identified. Five-minute SB-EEGs were analyzed with simultaneous recording of electrocardiograms. Mean HR, suppression duration, and burst period were calculated by measuring RR intervals. Two patients with KCNT1-DEE exhibited synchronous HR fluctuations, with an HR decrease during suppression and an increase during burst. The HR decrease was larger (-6.1% and -7.7%) and the median duration of suppression was longer (4.0 and 8.2 s) in patients with KCNT1-DEE than the other five (range: -2.9% to 0.9% and 0.7-1.7s, respectively). A strong negative correlation was confirmed between suppression duration and HR reduction rates in one patient with KCNT1-DEE. SB phases may influence HR regulation in patients with KCTN1-DEE.


Assuntos
Encefalopatias , Encéfalo , Recém-Nascido , Humanos , Estudos Retrospectivos , Frequência Cardíaca , Eletroencefalografia , Canais de Potássio Ativados por Sódio , Proteínas do Tecido Nervoso
19.
Brain Dev ; 45(5): 270-277, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-36690566

RESUMO

BACKGROUND: ST3GAL5 encodes GM3 synthase (ST3 beta-galactoside alpha-2,3-sialyltransferase 5; ST3GAL5), which synthesizes GM3 by transferring sialic acid to lactosylceramide. GM3, a sialic acid-containing glycosphingolipid known as ganglioside, is a precursor to the biosynthesis of various more complex gangliosides that are active in the brain. Biallelic variants in ST3GAL5 cause GM3 synthase deficiency (GM3SD), a rare congenital disorder of glycosylation. GM3SD was first identified in the Amish population in 2004. CASE: We report two siblings diagnosed with GM3SD due to novel compound heterozygous ST3GAL5 variants. The novel ST3GAL5 variants, detected by whole-exome sequencing in the patients, were confirmed to be pathogenic by GM3 synthase assay. The clinical courses of these patients, which began in infancy with irritability and growth failure, followed by developmental delay and hearing loss, were consistent with previous case reports of GM3SD. The older sibling underwent deep brain stimulation for severe involuntary movements at the age of 9 years. The younger sibling suffered from acute encephalopathy at the age of 9 months and subsequently developed refractory epilepsy. DISCUSSION: Reports of GM3SD outside the Amish population are rare, and whole-exome sequencing may be required to diagnose GM3SD in non-Amish patients. Since an effective treatment for GM3SD has not yet been established, we might select deep brain stimulation as a symptomatic treatment for involuntary movements in GM3SD.


Assuntos
Discinesias , Irmãos , Humanos , Criança , Lactente , Ácido N-Acetilneuramínico , Gangliosídeos
20.
No Shinkei Geka ; 51(1): 126-132, 2023 Jan.
Artigo em Japonês | MEDLINE | ID: mdl-36682757

RESUMO

Hemispherectomy/hemispherotomy is an important surgical procedure for patients with drug-resistant epilepsy who have a unilateral large epileptogenic lesion associated with neurological deficits, such as hemiparesis. Hemispherotomy consists of corpus callosotomy and dissection of projection fibers into the internal capsule. Hemispherotomy has two major approaches: periinsular lateral hemispherotomy(PIH)and vertical parasagittal hemispherotomy(VH). The white matter is incised along the periinsular sulcus to disrupt the internal capsule before corpus callosotomy is performed within the lateral ventricle in PIH. Corpus callosotomy is performed first with an interhemispheric approach, the lateral ventricle is entered, and the internal capsule is disconnected just lateral to the thalamus in the VH. Both approaches have similar efficacy for seizure control; however, a recent study suggested the possible superiority of VH. The chance of complete seizure freedom for one or two postoperative years has been reported to be 70% or greater. The risk of postoperative hydrocephalus is as high as 20%, particularly in young children. In this article, we present and discuss the surgical anatomy of hemispherotomy techniques.


Assuntos
Epilepsia Resistente a Medicamentos , Hemisferectomia , Hidrocefalia , Criança , Humanos , Pré-Escolar , Hemisferectomia/métodos , Resultado do Tratamento , Epilepsia Resistente a Medicamentos/cirurgia , Convulsões
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA