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1.
Eur J Med Genet ; 67: 104895, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38070824

RESUMEN

INTRODUCTION: NGLY1-associated congenital disorder of deglycosylation (CDDG1: OMIM #615273) is a rare autosomal recessive disorder caused by a functional impairment of endoplasmic reticulum in degradation of glycoproteins. Neurocognitive dysfunctions have been documented in patients with CDDG1; however, deteriorating phenotypes of affected individuals remain elusive. CASE PRESENTATION: A Japanese boy with delayed psychomotor development showed ataxic movements from age 5 years and myoclonic seizures from age 12 years. Appetite loss, motor and cognitive decline became evident at age 12 years. Electrophysiological studies identified paroxysmal discharges on myoclonic seizure and a giant somatosensory evoked potential. Perampanel was effective for controlling myoclonic seizures. Exome sequencing revealed that the patient carried compound heterozygous variants in NGLY1, NM_018297.4: c.857G > A and c.-17_12del, which were inherited from mother and father, respectively. A literature review confirmed that myoclonic seizures were observed in 28.5% of patients with epilepsy. No other patients had progressive myoclonic epilepsy or cognitive decline in association with loss-of-function variations in NGLY1. CONCLUSION: Our data provides evidence that a group of patients with CDDG1 manifest slowly progressive myoclonic epilepsy and cognitive decline during the long-term clinical course.


Asunto(s)
Trastornos Congénitos de Glicosilación , Epilepsias Mioclónicas , Epilepsias Mioclónicas Progresivas , Péptido-N4-(N-acetil-beta-glucosaminil) Asparagina Amidasa/deficiencia , Masculino , Humanos , Niño , Preescolar , Mutación , Epilepsias Mioclónicas Progresivas/genética , Fenotipo , Epilepsias Mioclónicas/tratamiento farmacológico , Epilepsias Mioclónicas/genética , Convulsiones
2.
MethodsX ; 11: 102448, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38023308

RESUMEN

The forest canopy harbors a diverse array of organisms. However, monitoring their biodiversity poses challenges due to limited accessibility and the vast taxonomic diversity. To address these challenges, we present a novel method for capturing arboreal biodiversity by harnessing stemflow as a source of DNA from organisms inhabiting trees. Our method involves encircling the tree trunk with gauze, directing the stemflow along the gauze into a funnel, and collecting it in a plastic bag. We employed dual collection systems to retrieve environmental DNA (eDNA) from the stemflow: the gauze trap, designed to capture macroscopic biological fragments, and the plastic bag trap, which collected the stemflow itself. The trapped fragments and stemflow were separately filtered, and eDNA was subsequently extracted from the filter membranes. To validate our method, we focused on foliose lichens, which are easily observable on tree surfaces. We performed eDNA metabarcoding and successfully detected a majority of the observed foliose lichen species, including those not identified through visual observation alone.•We have developed a non-invasive and straightforward method for monitoring arboreal biodiversity by collecting eDNA from stemflow, which has been validated using lichens for its efficacy.•This cost-effective approach minimizes disruptions to tree ecosystems and is expected to provide an efficient means of sampling and monitoring arboreal organisms.

4.
Surg Neurol Int ; 14: 189, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37404505

RESUMEN

Background: We previously demonstrated the usefulness of periorbital electrodes in supplemental recording to detect epileptiform discharges in patients with mesial temporal lobe epilepsy (MTLE). However, eye movement may disturb periorbital electrode recording. To overcome this, we developed mandibular (MA) and chin (CH) electrodes and examined whether these electrodes could detect hippocampal epileptiform discharges. Methods: This study included a patient with MTLE, who underwent insertion of bilateral hippocampal depth electrodes and video-electroencephalographic (EEG) monitoring with simultaneous recordings of extra- and intracranial EEG as part of a presurgical evaluation. We examined 100 consecutive interictal epileptiform discharges (IEDs) recorded from the hippocampus and two ictal discharges. We compared these IEDs from intracranial electrodes with those from extracranial electrodes such as MA and CH electrodes in addition to F7/8 and A1/2 of international EEG 10-20 system, T1/2 of Silverman, and periorbital electrodes. We analyzed the number, rate of laterality concordance, and mean amplitude of IEDs detected in extracranial EEG monitoring and characteristics of IEDs on the MA and CH electrodes. Results: The MA and CH electrodes had nearly the same detection rate of hippocampal IEDs from other extracranial electrodes without contamination by eye movement. Three IEDs, not detected by A1/2 and T1/2, could be detected using the MA and CH electrodes. In two ictal events, the MA and CH electrodes detected the ictal discharges from the hippocampal onset as well as other extracranial electrodes. Conclusion: The MA and CH electrodes could detect hippocampal epileptiform discharges as well as A1/A2, T1/T2, and peri-orbital electrodes. These electrodes could serve as supplementary recording tools for detecting epileptiform discharges in MTLE.

5.
Surg Neurol Int ; 14: 84, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37025532

RESUMEN

Background: Our recent report showed that 1.5-T pulsed arterial spin labeling (ASL) magnetic resonance (MR) perfusion imaging (1.5-T Pulsed ASL [PASL]), which is widely available in the field of neuroemergency, is useful for detecting ictal hyperperfusion. However, the visualization of intravascular ASL signals, namely, arterial transit artifact (ATA), is more remarkable than that of 3-T pseudocontinuous ASL and is easily confused with focal hyperperfusion. To eliminate ATA and enhance the detectability of (peri) ictal hyperperfusion, we developed the subtraction of ictal-interictal 1.5-T PASL images co-registered to conventional MR images (SIACOM). Methods: We retrospectively analyzed the SIACOM findings in four patients who underwent ASL during both (peri) ictal and interictal states and examined the detectability for (peri) ictal hyperperfusion. Results: In all patients, the ATA of the major arteries was almost eliminated from the subtraction image of the ictal-interictal ASL. In patients 1 and 2 with focal epilepsy, SIACOM revealed a tight anatomical relationship between the epileptogenic lesion and the hyperperfusion area compared with the original ASL image. In patient 3 with situation-related seizures, SIACOM detected minute hyperperfusion at the site coinciding with the abnormal electroencephalogram area. SIACOM of patient 4 with generalized epilepsy diagnosed ATA of the right middle cerebral artery, which was initially thought to be focal hyperperfusion on the original ASL image. Conclusion: Although it is necessary to examine several patients, SIACOM can eliminate most of the depiction of ATA and clearly demonstrate the pathophysiology of each epileptic seizure.

6.
Clin EEG Neurosci ; 54(2): 173-178, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-34825584

RESUMEN

Objective: Previous reports on the simultaneous recording of electroencephalography (EEG) and electrocorticography (ECoG) have demonstrated that, in patients with temporal lobe epilepsy (TLE), ictal ECoG discharges with an amplitude as high as 1000 µV originating from the medial temporal lobe could not be recorded on EEG. In contrast, ictal EEG discharges were recorded after ictal ECoG discharges propagated to the lateral temporal lobe. Here, we report a case of TLE in which the ictal EEG discharges, corresponding to ictal ECoG discharges confined to the medial temporal lobe, were recorded. Case report: In the present case, ictal EEG discharges were hardly recognized when the amplitude of the ECoG discharges was less than 1500 µV. During the evolution and burst suppression phase, corresponding to highly synchronized ECoG discharges with amplitudes greater than 1500 to 2000 µV, rhythmic negative waves with the same frequency were clearly recorded both on the lateral temporal lobe and scalp. The amplitude of the lateral temporal ECoG was approximately one-tenth of that of the medial temporal ECoG. The amplitude of the scalp EEG was approximately one-tenth of that of the lateral temporal ECoG. Conclusions: Highly synchronized ictal ECoG discharges with high amplitude of greater than 1500 to 2000 µV in the medial temporal lobe could be recorded on the scalp as ictal EEG discharges via volume conduction.


Asunto(s)
Electroencefalografía , Epilepsia del Lóbulo Temporal , Humanos , Electrocorticografía , Epilepsia del Lóbulo Temporal/diagnóstico , Cuero Cabelludo , Lóbulo Temporal
7.
Front Neurol ; 13: 979333, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36438951

RESUMEN

Purpose: Interictal epileptic discharges (IEDs) are known to affect cognitive function in patients with epilepsy, but the mechanism has not been elucidated. Sleep spindles appearing in synchronization with IEDs were recently demonstrated to impair memory consolidation in rat, but this has not been investigated in humans. On the other hand, the increase of sleep spindles at night after learning is positively correlated with amplified learning effects during sleep for motor sequence learning. In this study, we examined the effects of IEDs and IED-coupled spindles on motor sequence learning in patients with epilepsy, and clarified their pathological significance. Materials and methods: Patients undergoing long-term video-electroencephalography (LT-VEEG) at our hospital from June 2019 to November 2021 and age-matched healthy subjects were recruited. Motor sequence learning consisting of a finger-tapping task was performed before bedtime and the next morning, and the improvement rate of performance was defined as the sleep-dependent learning effect. We searched for factors associated with the changes in learning effect observed between the periods of when antiseizure medications (ASMs) were withdrawn for LT-VEEG and when they were returned to usual doses after LT-VEEG. Results: Excluding six patients who had epileptic seizures at night after learning, nine patients and 11 healthy subjects were included in the study. In the patient group, there was no significant learning effect when ASMs were withdrawn. The changes in learning effect of the patient group during ASM withdrawal were not correlated with changes in sleep duration or IED density; however, they were significantly negatively correlated with changes in IED-coupled spindle density. Conclusion: We found that the increase of IED-coupled spindles correlated with the decrease of sleep-dependent learning effects of procedural memory. Pathological IED-coupled sleep spindles could hinder memory consolidation, that is dependent on physiological sleep spindles, resulting in cognitive dysfunction in patients with epilepsy.

8.
Epilepsia ; 63(10): 2623-2636, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-35892321

RESUMEN

OBJECTIVE: The mechanisms underlying accelerated long-term forgetting (ALF) in patients with epilepsy are still under investigation. We examined the contribution of hippocampal subfields and their morphology to long-term memory performance in patients with focal epilepsy. METHODS: We prospectively assessed long-term memory and performed magnetic resonance imaging in 80 patients with focal epilepsy (61 with temporal lobe epilepsy and 19 with extratemporal lobe epilepsy) and 30 healthy controls. The patients also underwent electroencephalography recording. Verbal and visuospatial memory was tested 30 s, 10 min, and 1 week after learning. We assessed the volumes of the whole hippocampus and seven subfields and deformation of the hippocampal shape. The contributions of the hippocampal volumes and shape deformation to long-term forgetting, controlling for confounding factors, including the presence of interictal epileptiform discharges, were assessed by multiple regression analyses. RESULTS: Patients with focal epilepsy had lower intelligence quotients and route recall scores at 10 min than controls. The focal epilepsy group had smaller volumes of both the right and left hippocampal tails than the control group, but there were no statistically significant group differences for the volumes of the whole hippocampus or other hippocampal subfields. Multiple regression analyses showed a significant association between the left CA1 volume and the 1-week story retention (ß = 7.76; Bonferroni-corrected p = 0.044), but this was not found for the whole hippocampus or other subfield volumes. Hippocampal shape analyses revealed that atrophy of the superior-lateral, superior-central, and inferior-medial regions of the left hippocampus, corresponding to CA1 and CA2/3, was associated with the verbal retention rate. SIGNIFICANCE: Our results suggest that atrophy of the hippocampal CA1 region and its associated structures disrupts long-term memory consolidation in focal epilepsy. Neuronal cell loss in specific hippocampal subfields could be a key underlying cause of ALF in patients with epilepsy.


Asunto(s)
Epilepsias Parciales , Epilepsia del Lóbulo Temporal , Atrofia/patología , Epilepsias Parciales/complicaciones , Epilepsia del Lóbulo Temporal/complicaciones , Epilepsia del Lóbulo Temporal/diagnóstico por imagen , Epilepsia del Lóbulo Temporal/patología , Hipocampo/diagnóstico por imagen , Hipocampo/patología , Humanos , Imagen por Resonancia Magnética , Convulsiones/complicaciones , Lóbulo Temporal/patología
9.
Surg Neurol Int ; 13: 147, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35509552

RESUMEN

Background: Recent our reports showed that 3-T pseudocontinuous arterial spin labeling (3-T pCASL) magnetic resonance perfusion imaging with dual post labeling delay (PLD) of 1.5 and 2.5 s clearly demonstrated the hemodynamics of ictal hyperperfusion associated with non-convulsive status epilepticus (NCSE). We aimed to examine the utility of 1.5-T pulsed arterial spin labeling (1.5-T PASL), which is more widely available for daily clinical use, for detecting ictal hyperperfusion. Methods: We retrospectively analyzed the findings of 1.5-T PASL with dual PLD of 1.5 s and 2.0 s in six patients and compared the findings with ictal electroencephalographic (EEG) findings. Results: In patients 1 and 2, we observed the repeated occurrence of ictal discharges (RID) on EEG. In patient 1, with PLDs of 1.5 s and 2.0 s, ictal ASL hyperperfusion was observed at the site that matched the RID localization. In patient 2, the RID amplitude was extremely low, with no ictal ASL hyperperfusion. In patient 3 with lateralized periodic discharges (LPD), we observed ictal ASL hyperperfusion at the site of maximal LPD amplitude, which was apparent at a PLD of 2.0 s but not 1.5 sec. Among three patients with rhythmic delta activity (RDA) of frequencies <2.5 Hz (Patients 4-6), we observed obvious and slight increases in ASL signals in patients 4 and 5 with NCSE, respectively. However, there was no apparent change in ASL signals in patient 6 with possible NCSE. Conclusion: The detection of ictal hyperperfusion on 1.5-T PASL might depend on the electrophysiological intensity of the epileptic ictus, which seemed to be more prominent on 1.5-T PASL than on 3-T pCASL. The 1.5-T PASL with dual PLDs showed the hemodynamics of ictal hyperperfusion in patients with RID and LPD. However, it may not be visualized in patients with extremely low amplitude RID or RDA (frequencies <2.5 Hz).

10.
Surg Neurol Int ; 13: 164, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35509598

RESUMEN

Background: There is scarce evidence regarding focal resection surgery for super-refractory status epilepticus (SRSE), which is resistant to general anesthetic treatment over 24 h. We report two patients with SRSE, in whom good seizure outcomes were obtained following focal resection surgery. Case Description: Patient 1: A 58-year-old man who underwent left anterior temporal lobectomy with hippocampectomy at the age of 38 years after being diagnosed left medial temporal lobe epilepsy. After 19 years of surgery with no epileptic attacks, the patient developed SRSE. Electroencephalogram (EEG) demonstrated persistence of lateralized periodic discharges in the left frontotemporal region. On the 20th day after SRSE onset, resection of the frontal lobe and temporal lobe posterior to the resection cavity was performed. Patient 2: A 62-year-old man underwent craniotomy for anaplastic astrocytoma in the left frontal lobe at the age of 34 years. Since the age of 60 years, he developed SRSE 3 times over 1 and 1/12 years. On EEG, repeated ictal discharges were observed at the medial part of the left frontal region during the three SRSEs. Corresponding to the ictal EEG findings, high signals on diffusion-weighted magnetic resonance images and focal hypermetabolism on fluorodeoxyglucose-positron emission tomography were observed around the supplementary motor area, medial to the resection cavity. Resection surgery of the area was performed during the interictal period. Conclusion: Good seizure outcome was obtained in the two cases which provide additional support for the recent concept of focal resection surgery as an indication for SRSE.

11.
Clin EEG Neurosci ; 53(1): 61-69, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-33172294

RESUMEN

OBJECTIVE: Lateralized periodic discharges (LPDs), which constitute an abnormal electroencephalographic (EEG) pattern, are most often observed in critically ill patients with acute pathological conditions, and are less frequently observed in chronic conditions such as focal epilepsies, including temporal lobe epilepsy (TLE). Here we aim to explore the pathophysiological mechanism of LPD in TLE. METHODS: We retrospectively selected 3 patients with drug-resistant TLE who simultaneously underwent EEG and electrocorticography (ECoG) and demonstrated LPDs. We analyzed the correlation between the EEG and ECoG findings. RESULTS: In patients 1 and 2, LPDs were recorded in the temporal region of the scalp during the interictal periods, when repeated spikes followed by slow waves (spike-and-wave complexes; SWs) and periodic discharges (PDs) with amplitudes of >600 to 800 µV appeared in the lateral temporal lobe over a cortical area of >10 cm2. In patient 3, when the ictal discharges persisted and were confined to the medial temporal lobe, repeated SWs were provoked on the lateral temporal lobe. When repeated SWs with amplitudes of >800 µV appeared in an area of the lateral temporal lobe of >10 cm2, the corresponding EEG discharges appeared on the temporal scalp. CONCLUSIONS: LPDs in patients with TLE originate from repeated SWs and PDs of the lateral temporal lobe, which might represent a highly irritable state of the lateral temporal cortex during both interictal and ictal periods.


Asunto(s)
Epilepsia del Lóbulo Temporal , Electrocorticografía , Electroencefalografía , Epilepsia del Lóbulo Temporal/diagnóstico , Humanos , Estudios Retrospectivos
12.
Surg Neurol Int ; 12: 379, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34513146

RESUMEN

BACKGROUND: Temporal lobe epilepsy (TLE) associated with temporal lobe encephalocele is rare, and the precise epileptogenic mechanisms and surgical strategies for such cases are still unknown. Although the previous studies have reported good seizure outcomes following chronic subdural electrode recording through invasive craniotomy, only few studies have reported successful epilepsy surgery through endoscopic endonasal lesionectomy. CASE DESCRIPTION: An 18-year-old man developed generalized convulsions at the age of 15 years. Despite treatment with optimal doses of antiepileptic drugs, episodes of speech and reading difficulties were observed 2-3 times per week. Long-term video electroencephalogram (EEG) revealed ictal activities starting from the left anterior temporal region. Magnetic resonance imaging revealed a temporal lobe encephalocele in the left lateral fossa of the sphenoidal sinus (sphenoidal encephalocele). Through the endoscopic endonasal approach, the tip of the encephalocele was exposed. A depth electrode was inserted into the encephalocele, which showed frequent spikes superimposed with high-frequency oscillations (HFOs) suggesting intrinsic epileptogenicity. The encephalocele was resected 8 mm from the tip. Twelve months postoperatively, the patient had no recurrence of seizures on tapering of the medication. CONCLUSION: TLE associated with sphenoidal encephalocele could be controlled with endoscopic endonasal lesionectomy, after confirming the high epileptogenicity with analysis of HFOs of intraoperative EEG recorded using an intralesional depth electrode.

13.
Clin Neurol Neurosurg ; 209: 106922, 2021 10.
Artículo en Inglés | MEDLINE | ID: mdl-34509751

RESUMEN

BACKGROUND: Primary brain tumor is a leading cause of death in cancer-bearing children. Acutely progressive patterns of electroencephalography (EEG) remain to be investigated for children with rapidly growing brain tumors. CASE REPORT: A 14-month-old boy was transferred to our department for prolonged seizures and unrecovered consciousness on his fifth day of illness. The EEG recording on admission showed highly disorganized background activity with high-voltage rhythmic delta waves. Serial EEG monitoring revealed a rapid transition of the background activity to the suppression-burst pattern, and then to generalized suppression of cortical activity within a few hours after admission. Magnetic resonance imaging detected a midline tumor at the pineal gland extending to the midbrain and pons. The tumor was pathologically confirmed as atypical teratoid/rhabdoid tumor (AT/RT) with absent expression of SMARCB1. He died of tumor progression on the 20th day after admission. CONCLUSION: AT/RT is an additional category of brain tumors that cause the clinically and electro-physiologically critical condition in a few days after the onset.


Asunto(s)
Neoplasias Encefálicas/diagnóstico , Encéfalo/fisiopatología , Tumor Rabdoide/diagnóstico , Encéfalo/diagnóstico por imagen , Neoplasias Encefálicas/diagnóstico por imagen , Neoplasias Encefálicas/fisiopatología , Electroencefalografía , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Tumor Rabdoide/diagnóstico por imagen , Tumor Rabdoide/fisiopatología
14.
Brain Dev ; 43(10): 1044-1050, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-34301435

RESUMEN

BACKGROUND: Chemotherapy in childhood leukemia potentially induces brain lesions and neurological sequelae. Paroxysmal sympathetic hyperactivity (PSH) is known as a treatment-associated complication; however, the full clinical spectra of PSH remain to be elusive. CASE REPORT: A 5-year-old girl was diagnosed of acute myeloid leukemia (AML) M5. After the intensification therapy, she developed recurrent symptoms of episodic tachycardia, hypertension and perspiration lasting for several hours per day. The low-frequency-high-frequency ratio on Holter electrocardiography was rapidly increased from 0.84 to 2.24 at the onset of the paroxysmal event, whereas the video-monitoring electroencephalography (EEG) never identified ictal patterns of epileptiform discharges during the episodes. Thus, the diagnosis of PSH was given at 7 years of age. Myoclonic and generalized tonic-clonic seizures frequently appeared from 10 years of age, which poorly responded to anticonvulsants. EEG showed diffuse slow-wave bursts with multifocal spikes. Serial head magnetic resonance imaging (MRI) revealed diffuse cerebral and hippocampal atrophy, but not inflammatory lesions in the limbic system. CONCLUSION: We first demonstrate a pediatric case with PSH who developed drug-resistant epilepsy 3 years after the onset of PSH. Our data suggest the pathophysiological link of persistent PSH with chemotherapy-associated brain damage.


Asunto(s)
Antineoplásicos/efectos adversos , Enfermedades del Sistema Nervioso Autónomo/inducido químicamente , Epilepsia Refractaria/inducido químicamente , Leucemia Mieloide Aguda/tratamiento farmacológico , Síndromes de Neurotoxicidad/etiología , Niño , Femenino , Humanos
15.
Surg Neurol Int ; 12: 217, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34084644

RESUMEN

BACKGROUND: Waardenburg syndrome (WS) is caused by autosomal dominant mutations. Since the coexistence of epilepsy and WS type I is rare, the detailed clinical features and treatment of epilepsy, including surgery, have not been fully reported for these patients. We report the first case of an individual with WS type I, who underwent corpus callosotomy (CC) for drug-resistant epilepsy and obtained good seizure outcomes. CASE DESCRIPTION: A boy was diagnosed as having WS type I and developmental delay based on characteristic symptoms and a family history of hearing loss. He underwent cochlear implantation at 18 months of age. At 4 years of age, he developed epileptic seizures with a semiology of drop attack. Electroencephalography (EEG) showed bilateral synchronous high-amplitude spikes and wave bursts, dominant in the right hemisphere. Based on the multimodality examinations, we considered that ictal discharges propagated from the entire right hemisphere to the left, resulting in synchronous discharge and a clinical drop attack; therefore, CC was indicated. At 9 years of age, he underwent a front 2/3rd CC. At 1 year, the patient became seizure free, and interictal EEG showed less frequent and lower amplitude spike and wave bursts than before. CONCLUSION: When patients with WS Type I and cognitive impairment show drug-resistant epilepsy, clinicians should consider a presurgical evaluation.

16.
Neuroimage ; 237: 118104, 2021 08 15.
Artículo en Inglés | MEDLINE | ID: mdl-33933597

RESUMEN

It remains unclear whether epileptogenic networks in focal epilepsy develop on physiological networks. This work aimed to explore the association between the rapid spread of ictal fast activity (IFA), a proposed biomarker for epileptogenic networks, and the functional connectivity or networks of healthy subjects. We reviewed 45 patients with focal epilepsy who underwent electrocorticographic (ECoG) recordings to identify the patients showing the rapid spread of IFA. IFA power was quantified as normalized beta-gamma band power. Using published resting-state functional magnetic resonance imaging databases, we estimated resting-state functional connectivity of healthy subjects (RSFC-HS) and resting-state networks of healthy subjects (RSNs-HS) at the locations corresponding to the patients' electrodes. We predicted the IFA power of each electrode based on RSFC-HS between electrode locations (RSFC-HS-based prediction) using a recently developed method, termed activity flow mapping. RSNs-HS were identified using seed-based and atlas-based methods. We compared IFA power with RSFC-HS-based prediction or RSNs-HS using non-parametric correlation coefficients. RSFC and seed-based RSNs of each patient (RSFC-PT and seed-based RSNs-PT) were also estimated using interictal ECoG data and compared with IFA power in the same way as RSFC-HS and seed-based RSNs-HS. Spatial autocorrelation-preserving randomization tests were performed for significance testing. Nine patients met the inclusion criteria. None of the patients had reflex seizures. Six patients showed pathological evidence of a structural etiology. In total, we analyzed 49 seizures (2-13 seizures per patient). We observed significant correlations between IFA power and RSFC-HS-based prediction, seed-based RSNs-HS, or atlas-based RSNs-HS in 28 (57.1%), 21 (42.9%), and 28 (57.1%) seizures, respectively. Thirty-two (65.3%) seizures showed a significant correlation with either seed-based or atlas-based RSNs-HS, but this ratio varied across patients: 27 (93.1%) of 29 seizures in six patients correlated with either of them. Among atlas-based RSNs-HS, correlated RSNs-HS with IFA power included the default mode, control, dorsal attention, somatomotor, and temporal-parietal networks. We could not obtain RSFC-PT and RSNs-PT in one patient due to frequent interictal epileptiform discharges. In the remaining eight patients, most of the seizures showed significant correlations between IFA power and RSFC-PT-based prediction or seed-based RSNs-PT. Our study provides evidence that the rapid spread of IFA in focal epilepsy can arise from physiological RSNs. This finding suggests an overlap between epileptogenic and functional networks, which may explain why functional networks in patients with focal epilepsy frequently disrupt.


Asunto(s)
Conectoma , Epilepsias Parciales/fisiopatología , Red Nerviosa/fisiopatología , Convulsiones/fisiopatología , Adolescente , Adulto , Epilepsia Refractaria , Electrocorticografía , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Estudios Retrospectivos , Adulto Joven
17.
Surg Neurol Int ; 12: 98, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33880203

RESUMEN

BACKGROUND: Subcortical epilepsies associated with developmental tumors in the cerebellum are rarely experienced. As supportive evidence of the intrinsic epileptogenicity of cerebellar tumors, previous electroencephalogram (EEG) studies with intratumoral depth electrodes demonstrated epileptiform or ictal discharges. Recent studies have demonstrated that high frequency oscillations (HFOs) can be regarded as a new biomarker of epileptogenesis and ictogenesis; however, there are few evidence about HFOs in cases of epilepsy associated with cerebellar tumors. CASE DESCRIPTION: A 6-month-old Japanese male infant presented to our hospital with drug resistant epilepsy. We underwent subtotal resection of a cerebellar gangliocytoma and obtained good seizure outcomes. Intraoperative EEG in the tumor depicted HFOs in the form of ripples, riding on periodic discharges. CONCLUSION: Our findings provide further supportive evidence for the intrinsic epileptogenicity of cerebellar tumors.

18.
Epilepsy Res ; 174: 106647, 2021 08.
Artículo en Inglés | MEDLINE | ID: mdl-33915304

RESUMEN

OBJECTIVE: Absence epilepsy shows age-related clinical features, as is observed in childhood and juvenile absence epilepsy. Electroencephalogram (EEG) is characterized by bursts of 3 Hz spike-and-wave complex (SWC). We noticed a morphological variation of the slow-wave component of SWCs between patients. This study investigated whether the waveform of SWC might be associated with the child's age of this epilepsy. METHODS: Digitally-recorded EEGs under medication-free conditions were collected from 25 children who received the diagnosis of childhood or juvenile absence epilepsy. The morphology of slow wave in SWC in the frontal midline region was quantitatively compared between younger and older children using a cluster-based permutation test. RESULTS: At <7 years of age (2.9-6.5 years of age, n = 6), the electrical potential of the descending slope in the slow wave was positively correlated with age whereas this correlation was not observed in patients of ≥7 years of age (7.1-12.9 years, n = 19). A cluster-based permutation test confirmed the results-among the entire slow wave period (0-285 msec), the period of the descending slope (195-260 msec) showed significantly lower potential in patients of <7 years of age in comparison to patients of ≥7 years of age (sum of t-values: 46.57, p-value: 0.011). CONCLUSIONS: The current study demonstrated an age-dependent morphological difference in the slow-wave components of SWCs in EEGs of patients with pediatric absence epilepsy. This finding may provide a clue to understanding the age-related clinical manifestations of this epilepsy.


Asunto(s)
Epilepsia Tipo Ausencia , Adolescente , Niño , Preescolar , Electroencefalografía , Epilepsia Tipo Ausencia/diagnóstico , Humanos
19.
eNeurologicalSci ; 19: 100233, 2020 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-32181377

RESUMEN

BACKGROUND: Magnetic resonance imaging (MRI), including perfusion MRI with three-dimensional pseudocontinuous arterial spin labeling (ASL) and diffusion-weighted imaging (DWI), are applied in the periictal (including ictal and postictal) detection of circulatory and metabolic consequences associated with epilepsy. Our previous report revealed that periictal hyperperfusion can firstly be detected on ASL, and cortical hyperintensity of cytotoxic edema secondarily obtained on DWI from an epileptically activated cortex. Although magnetic resonance angiography (MRA) using three-dimensional time-of-flight is widely used to evaluate arterial circulation, few MRA studies have investigated the detection of periictal hyperperfusion. METHODS: To compare the ability of ASL and MRA to detect the periictal hyperperfusion on visual inspection, we retrospectively selected 23 patients who underwent ASL and MRA examination on both periictal and interictal periods. Patients were divided into the following three groups according to periictal ASL/DWI findings: positive ASL and DWI findings (n = 13, ASL+/DWI+ group), positive ASL and negative DWI findings (n = 5, ASL+/DWI- group), and negative ASL and DWI findings (n = 5, ASL-/DWI- group). RESULTS: Periictal hyperperfusion on MRA was detected in 6 out of 13 patients (46.2%) in the ASL+/DWI+ group, but not in all patients in the ASL+/DWI- and ASL-/DWI- groups. Furthermore, in 5 out of these 6 patients, the diagnosis of periictal MRA hyperperfusion could not be made without referring to interictal MRA and/or periictal ASL findings, because the periictal MRA findings were so minute. CONCLUSION: The minimum requirement for the development of periictal MRA hyperperfusion is that its epileptic event is intense enough to induce the uncoupling between metabolism and circulation, with the induction of glutamate excitotoxity, and severe cytotoxic edema on DWI. ASL is vastly superior to MRA in the detection of periictal hyperperfusion.

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