Melissa Tsuboyama
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View article: Neuropsychiatric comorbidities and TMS biomarker influence postsurgical seizure outcomes in children with refractory focal epilepsy
Neuropsychiatric comorbidities and TMS biomarker influence postsurgical seizure outcomes in children with refractory focal epilepsy Open
View article: Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants
Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants Open
Somatic mosaic variants contribute to focal epilepsy, with variants often present only in brain tissue and not in blood or other samples typically assayed for genetic testing. Thus, genetic analysis for mosaic variants in focal epilepsy ha…
View article: RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures Open
Missense variants in DNA-binding domain correlate to a more severe cerebellar phenotype. The RORA-related-neurodevelopmental disorder triad comprises developmental disability, cerebellar features, and a spectrum of myoclonic epilepsy.
View article: Intralesional epileptiform activity in a fourth ventricular hamartoma associated with epileptic hemifacial spasm in a toddler: illustrative case
Intralesional epileptiform activity in a fourth ventricular hamartoma associated with epileptic hemifacial spasm in a toddler: illustrative case Open
BACKGROUND Focal epilepsy caused by a posterior fossa lesion is a rare phenomenon. In these cases, seizure onset typically occurs during the first few months of life, with episodes of epileptic hemifacial spasms and abnormal eye movements.…
View article: Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants
Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants Open
Somatic mosaic variants contribute to focal epilepsy, but genetic analysis has been limited to patients with drug-resistant epilepsy (DRE) who undergo surgical resection, as the variants are mainly brain-limited. Stereoelectroencephalograp…
View article: Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder Open
View article: EEG band power and phase‐amplitude coupling in patients with Dravet syndrome
EEG band power and phase‐amplitude coupling in patients with Dravet syndrome Open
Objective Dravet syndrome (DS) is an epileptic encephalopathy caused by haploinsufficiency of the SCN1A gene. SCN1A gene deficiency limits the firing rates of fast‐spiking inhibitory interneurons, which should reflect in abnormal aggregate…
View article: Predictive factors for seizure freedom after epilepsy surgery for pediatric low-grade tumors and focal cortical dysplasia
Predictive factors for seizure freedom after epilepsy surgery for pediatric low-grade tumors and focal cortical dysplasia Open
View article: 41 Characterizing the Cognitive Profile of Pediatric Insular Epilepsy
41 Characterizing the Cognitive Profile of Pediatric Insular Epilepsy Open
Objective: Little research exists characterizing the neuropsychological profile of pediatric insular epilepsy. Accurate diagnosis of insular epilepsy is challenging due to difficulties localizing deep brain structures with current non-inva…
View article: Influence of extent and age at corpus callosotomy on seizure outcomes. A single center experience
Influence of extent and age at corpus callosotomy on seizure outcomes. A single center experience Open
Corpus callosotomy (CC) is a palliative treatment for drop seizures in patients with drug‐resistant nonlocalizable epilepsy. We compared drop seizure outcomes between patients undergoing anterior CC versus complete CC and examined factors …
View article: Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy Open
Importance Genomic advances inform our understanding of epilepsy and can be translated to patients as precision diagnoses that influence clinical treatment, prognosis, and counseling. Objective To delineate the genetic landscape of pediatr…
View article: Focal drug-resistant temporal lobe epilepsy associated with an ipsilateral anterior choroidal artery aneurysm: illustrative case
Focal drug-resistant temporal lobe epilepsy associated with an ipsilateral anterior choroidal artery aneurysm: illustrative case Open
BACKGROUND The occurrence of both an intracranial aneurysm and epilepsy, especially drug-resistant epilepsy (DRE), is rare. Although the overall incidence of aneurysms associated with DRE is unclear, it is thought to be particularly infreq…
View article: The presence and severity of epilepsy coincide with reduced γ‐aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency
The presence and severity of epilepsy coincide with reduced γ‐aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency Open
Objective Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare inherited metabolic disorder caused by a defect of γ‐aminobutyrate (GABA) catabolism. Despite the resultant hyper‐GABAergic environment facilitated by the metaboli…
View article: Reduced evoked cortical beta and gamma activity and neuronal synchronization in succinic semialdehyde dehydrogenase deficiency, a disorder of γ-aminobutyric acid metabolism
Reduced evoked cortical beta and gamma activity and neuronal synchronization in succinic semialdehyde dehydrogenase deficiency, a disorder of γ-aminobutyric acid metabolism Open
Succinic semialdehyde dehydrogenase deficiency is a rare autosomal recessively inherited metabolic disorder of γ-aminobutyric acid catabolism manifested by intellectual disability, expressive aphasia, movement disorders, psychiatric ailmen…
View article: Stereoelectroencephalography followed by combined electrode removal and MRI-guided laser interstitial thermal therapy or open resection: a single-center series in pediatric patients with medically refractory epilepsy
Stereoelectroencephalography followed by combined electrode removal and MRI-guided laser interstitial thermal therapy or open resection: a single-center series in pediatric patients with medically refractory epilepsy Open
OBJECTIVE Stereoelectroencephalography (SEEG) and MRI-guided laser interstitial thermal therapy (MRgLITT) have emerged as safe, effective, and less invasive alternatives to subdural grid placement and open resection, respectively, for the …
View article: Interictal Connectivity Revealed by Granger Analysis of Stereoelectroencephalography: Association With Ictal Onset Zone, Resection, and Outcome
Interictal Connectivity Revealed by Granger Analysis of Stereoelectroencephalography: Association With Ictal Onset Zone, Resection, and Outcome Open
BACKGROUND: Stereoelectroencephalography (sEEG) facilitates electrical sampling and evaluation of complex deep-seated, dispersed, and multifocal locations. Granger causality (GC), previously used to study seizure networks using interictal …
View article: Discrepant expressive language lateralization in children and adolescents with epilepsy
Discrepant expressive language lateralization in children and adolescents with epilepsy Open
Neuronavigated transcranial magnetic stimulation (nTMS) has emerged as a presurgical language mapping tool distinct from the widely used functional magnetic resonance imaging (fMRI). We report fMRI and nTMS language‐mapping results in 19 p…
View article: Clinical characteristics and outcomes after new‐onset seizure among Zambian children with HIV during the antiretroviral therapy era
Clinical characteristics and outcomes after new‐onset seizure among Zambian children with HIV during the antiretroviral therapy era Open
Objective This study describes clinical profiles including human immunodeficiency virus (HIV) disease history and seizure etiology among children living with HIV presenting with new‐onset seizure during the era of antiretroviral therapy (A…
View article: Transcranial Magnetic Stimulation in Succinic Semialdehyde Dehydrogenase Deficiency: A Measure of Maturational Trajectory of Cortical Excitability
Transcranial Magnetic Stimulation in Succinic Semialdehyde Dehydrogenase Deficiency: A Measure of Maturational Trajectory of Cortical Excitability Open
Background: Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a disorder of GABA degradation with use-dependent downregulation of postsynaptic GABA A/B receptors. We aim to measure the resulting cortical excitation: inhibition rat…
View article: <i>CHL1</i> deletion is associated with cognitive and language disabilities – Case report and review of literature
<i>CHL1</i> deletion is associated with cognitive and language disabilities – Case report and review of literature Open
Background There is a small, but growing number of reports of pediatric patients with terminal deletions at 3p26.3 involving only the cell adhesion molecule L1‐like ( CHL1) gene that has been found to have language delays and intellectual …
View article: Safety of rTMS in patients with intracranial metallic objects
Safety of rTMS in patients with intracranial metallic objects Open
View article: Biomarkers Obtained by Transcranial Magnetic Stimulation of the Motor Cortex in Epilepsy
Biomarkers Obtained by Transcranial Magnetic Stimulation of the Motor Cortex in Epilepsy Open
Epilepsy is associated with numerous neurodevelopmental disorders. Transcranial magnetic stimulation (TMS) of the motor cortex coupled with electromyography (EMG) enables biomarkers that provide measures of cortical excitation and inhibiti…
View article: Assessing the localization accuracy and clinical utility of electric and magnetic source imaging in children with epilepsy
Assessing the localization accuracy and clinical utility of electric and magnetic source imaging in children with epilepsy Open
Localizing the IZ non-invasively with MSI/ESI facilitates presurgical evaluation and surgical prognosis assessment.
View article: Neurologic Complications of Acute Posterior Multifocal Placoid Pigment Epitheliopathy: A Case Series of 4 Patients
Neurologic Complications of Acute Posterior Multifocal Placoid Pigment Epitheliopathy: A Case Series of 4 Patients Open
Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is a self-limited idiopathic inflammatory ophthalmologic condition with characteristic funduscopic and fluorescein angiography findings. It is typically characterized by a …
View article: Devices for Ambulatory Monitoring of Sleep-Associated Disorders in Children with Neurological Diseases
Devices for Ambulatory Monitoring of Sleep-Associated Disorders in Children with Neurological Diseases Open
Good sleep quality is essential for a child’s wellbeing. Early sleep problems have been linked to the later development of emotional and behavioral disorders and can negatively impact the quality of life of the child and his or her family.…