175 results on '"Holland, Katherine"'
Search Results
52. A rare case of paediatric astroblastoma with concomitant MN1‐GTSE1 and EWSR1‐PATZ1 gene fusions altering management.
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Chadda, Karan R., Holland, Katherine, Scoffings, Daniel, Dean, Andrew, Pickles, Jessica C., Behjati, Sam, Jacques, Thomas S., Trotman, Jamie, Tarpey, Patrick, Allinson, Kieren, and Murray, Matthew J.
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GENE fusion , *PLANT chromosomes , *SOFT tissue tumors - Abstract
To assess the vascularity of the tumour preoperatively, digital subtraction angiography was also performed which demonstrated displacement of the anterior cerebral arteries to the left side, consistent with mass effect secondary to tumour, but minimal tumour "blush" following contrast phasing through the brain centrally. In a case of astroblastoma, methylation analysis was uninformative, with no clustering with known CNS-HGNET-MN1 cases. Here, the molecular confirmation of the novel I MN1 i - I GTSE1 i gene fusion, diagnostic of astroblastoma, supported the team in recommending 3-monthly follow-up, rather than the standard 6-monthly approach which would be more typical for a glioneuronal tumour. A rare case of paediatric astroblastoma with concomitant MN1-GTSE1 and EWSR1-PATZ1 gene fusions altering management. [Extracted from the article]
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- 2021
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53. Fast Automated Stereo-EEG Electrode Contact Identification and Labeling Ensemble.
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Ervin, Brian, Rozhkov, Leonid, Buroker, Jason, Leach, James L., Mangano, Francesco T., Greiner, Hansel M., Holland, Katherine D., and Arya, Ravindra
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Introduction: Stereotactic electroencephalography (SEEG) has emerged as the preferred modality for intracranial monitoring in drug-resistant epilepsy (DRE) patients being evaluated for neurosurgery. After implantation of SEEG electrodes, it is important to determine the neuroanatomic locations of electrode contacts (ECs), to localize ictal onset and propagation, and integrate functional information to facilitate surgical decisions. Although there are tools for coregistration of preoperative MRI and postoperative CT scans, identification, sorting, and labeling of SEEG ECs is often performed manually, which is resource intensive. We report development and validation of a software named Fast Automated SEEG Electrode Contact Identification and Labeling Ensemble (FASCILE). Methods: FASCILE is written in Python 3.8.3 and employs a novel automated method for identifying ECs, assigning them to respected SEEG electrodes, and labeling. We compared FASCILE with our clinical process of identifying, sorting, and labeling ECs, by computing localization error in anteroposterior, superoinferior, and lateral dimensions. We also measured mean Euclidean distances between ECs identified by FASCILE and the clinical method. We compared time taken for EC identification, sorting, and labeling for the software developer using FASCILE, a first-time clinical user using FASCILE, and the conventional clinical process. Results: Validation in 35 consecutive DRE patients showed a mean overall localization error of 0.73 ± 0.15 mm. FASCILE required 10.7 ± 5.5 min/patient for identifying, sorting, and labeling ECs by a first-time clinical user, compared to 3.3 ± 0.7 h/patient required for the conventional clinical process. Conclusion: Given the accuracy, speed, and ease of use, we expect FASCILE to be used frequently for SEEG-driven epilepsy surgery. It is freely available for noncommercial use. FASCILE is specifically designed to expedite localization of ECs, assigning them to respective SEEG electrodes (sorting), and labeling them and not for coregistration of CT and MRI data as there are commercial software available for this purpose. [ABSTRACT FROM AUTHOR]
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- 2021
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54. Outcome after surgical treatment
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Holland, Katherine D. and Wyllie, Elaine
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- 2002
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55. Perspectives of Students With Disabilities Toward Physical Education: A Review Update 2014–2019.
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Holland, Katherine and Haegele, Justin A.
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STUDENT attitudes ,STUDENTS with disabilities ,DISABILITIES ,PHYSICAL education ,TEACHER influence ,DIGITAL storytelling - Abstract
The purpose of this article is to review qualitative inquiries examining the perspectives of students with disabilities toward physical education (PE) published from 2014 to 2019, as an update to the 2015 review by Haegele and Sutherland. Keyword searches were used to identify articles from nine electronic databases, and seven articles met all inclusion criteria. The seven selected articles were subjected to a narrative analysis, and three thematic clusters emerged: (a) an "inconvenience": the PE teacher's influence on quality of experience, (b) "we play together and I like it": friendships central to the quality of PE experience, and (c) "no lift access to the gym": barriers to successful participation. Findings from this review support the notion that students with disabilities may have positive experiences in PE if they are offered appropriate modifications and accommodations and are provided with increased kind and supportive interactions with staff and peers. [ABSTRACT FROM AUTHOR]
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- 2021
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56. Efficacy, pharmacology, and adverse effects of antiepileptic drugs
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Holland, Katherine D.
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- 2001
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57. Genetic Testing in Epilepsy.
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Ritter, David M. and Holland, Katherine
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GENETIC testing , *EPILEPSY , *CELL communication , *PATIENT care , *PEOPLE with epilepsy - Abstract
Because of next-generation sequencing and the discovery of many new causative genes, genetic testing in epilepsy patients has become widespread. Pathologic variants resulting in epilepsy cause a variety of changes that can be broadly classified into syndromic disorders (i.e., chromosomal abnormalities), metabolic disorders, brain malformations, and abnormal cellular signaling. Here, we review the available genetic testing, reasons to pursue genetic testing, common genetic causes of epilepsy, the data behind what patients are found to have genetic epilepsies based on current testing, and discussing these results with patients. We propose an algorithm for testing patients with epilepsy to maximize yield and limit costs based on their phenotype (including electroencephalography and magnetic resonance imaging findings), age of seizure onset, and presence of other neurologic comorbidities. Being able to discern which type of genetic testing to order, using that information to give targeted and cost-effective patient care, and interpreting results accurately will be a crucial skill for the modern neurologist. [ABSTRACT FROM AUTHOR]
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- 2020
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58. Fitness testing experiences in integrated physical education as reflected by adults with visual impairments.
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Haegele, Justin A, Zhu, Xihe, and Holland, Katherine
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PHYSICAL education ,SOCIAL development ,MATURATION (Psychology) ,PHYSICAL training & conditioning ,ADULTS - Abstract
The purpose of this study was to describe the experiences of adults with visual impairments regarding fitness testing during their integrated physical education experiences. An interpretative phenomenological analysis research approach was used and 11 adults (ages 20–35 years) with visual impairments acted as participants. The primary sources of data were semi-structured audiotaped telephone interviews and reflective interview notes. Thematic development was undertaken using a three-step analytical process. Based on the data analysis, the following three interrelated themes were constructed from the data: (a) 'decent at sit-ups, but the others were embarrassing': mixed feelings about performance; (b) 'I couldn't reach my full potential': forced exclusion/inclusion; and (c) 'I felt like a museum exhibit': navigating unwanted social attention. These themes extend the current literature by describing salient features of fitness testing that influence the meaning that individuals with visual impairments place on those experiences. [ABSTRACT FROM AUTHOR]
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- 2020
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59. Impact of the COVID-19 pandemic on eating disorder-related hospital and programme admissions in youth.
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Devoe, Daniel J. and Holland, Katherine M. G.
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EATING disorders in adolescence ,MEDICAL care for teenagers ,HUMAN services programs ,MEDICAL personnel ,OUTPATIENT services in hospitals ,MEDICAL care ,PATIENT care ,HELP-seeking behavior ,CHILDREN'S hospitals ,QUALITY assurance ,HOSPITAL health promotion programs ,COVID-19 pandemic - Published
- 2024
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60. Exploring the Intersection Between Disability and Overweightness in Physical Education Among Females With Visual Impairments.
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Haegele, Justin A., Zhu, Xihe, and Holland, Katherine
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PEOPLE with visual disabilities ,WOMEN with disabilities ,OVERWEIGHT women ,BLINDNESS ,PHYSICAL activity ,INTERSECTIONALITY - Abstract
Purpose: The purpose of this study was to adopt an explicitly intersectional approach to examine the experiences of women identifying as having a visual impairment and as being overweight or obese in integrated physical education (PE). Method: An interpretative phenomenological analysis (IPA) research approach was used, and six women (ages 25-34) with visual impairments who identified as being overweight or obese acted as participants. The sources of data included semistructured audiotaped telephone interviews and reflective interview notes. Data were analyzed thematically using a three-step analytic process informed by IPA. Results: Based on the data analysis, three inter-related themes emerged. The first theme, restricted/reluctant participation, described participants' experiences with PE activity restrictions and the influence of visual impairment and overweight or obesity on these restrictions. The second theme, teacher discrimination, described participants' recollection of discriminatory practices by physical educators that were influenced by perceptions of inability. Finally, the third theme, isolation, teasing and surveillance issues, described challenging social instances and how those instances were influenced by body size and disability status. Conclusions: Using an IPA approach, three themes emerged that exposed central experiences that were informed by the participants' identities as individuals with visual impairments and being overweight or obese. Through the lens of intersectionality, these themes contribute to our understanding of how these identities interacted to contribute to disadvantaging experiences in PE. [ABSTRACT FROM AUTHOR]
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- 2019
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61. Making It Stick: Teaching Students with Autism to Generalize Physical Education Skills.
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Holland, Steven K., Holland, Katherine, Haegele, Justin A., and Alber-Morgan, Sheila R.
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AUTISM , *COMMUNICATION , *GOAL (Psychology) , *HIGH school students , *LEARNING , *LEARNING strategies , *MOTIVATION (Psychology) , *PARENTS , *PHYSICAL education , *REINFORCEMENT (Psychology) , *SELF-management (Psychology) , *TEACHERS , *PEDOMETERS , *PHYSICAL activity - Abstract
Research indicates that although students with disabilities, including those with autism spectrum disorder (ASD), can be successful in acquiring motor and sport-related skills during physical education, they tend to struggle with generalizing those skills to other settings. Difficulties with generalization of physical education skills may contribute to low levels of physical activity and sport participation by individuals with ASD outside of physical education. Since generalization is unlikely to occur automatically, physical education teachers must plan and teach for generalized outcomes. Several strategies exist that can be used by educators to promote the generalization of skills to other settings or with other people. Physical education teachers can promote the use of motor skills and participation in physical activities in environments outside of school by embedding these strategies into their curriculum for the benefit of all students. The purpose of this article is to provide physical educators with practical generalization programming interventions for students with ASD. [ABSTRACT FROM AUTHOR]
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- 2019
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62. Clinical, Neuroimaging, and Electrographic Predictors of Phenobarbital Failure in Newborns With Hypoxic Ischemic Encephalopathy and Seizures.
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Dwivedi, Deepak, Lin, Nan, Venkatesan, Charu, Kline-Fath, B., Holland, Katherine, and Schapiro, Mark
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DEMOGRAPHIC characteristics ,MAGNETIC resonance imaging ,BRAIN imaging ,NEWBORN infants ,ANTICONVULSANTS - Abstract
Background: Many neonates with hypoxic ischemic encephalopathy and seizures do not respond to the first line antiepileptic drug, phenobarbital. Little is known about what factors are associated with its failure. Objective: To examine factors associated with failure of phenobarbital therapy in neonates with hypoxic ischemic encephalopathy and seizures. Design/Methods: A single-center retrospective review of 50 term (>35 weeks) neonates with hypoxic ischemic encephalopathy and seizures treated with phenobarbital as the first-line antiepileptic. Neonates were classified into either responders (n = 30) or nonresponders (n = 20). Nonresponse was defined as continued seizures after maximum dosing of phenobarbital or an additional antiepileptic. Subjects with acceptable magnetic resonance imaging (MRI) scans obtained within 2 weeks of birth were included in the study and rated using an MRI injury scoring system. Charts were reviewed for demographic, clinical, and laboratory variables. Resuscitation and seizure scores were also calculated. Electroencephalographic (EEG) background activity was reviewed in 2 different time epochs (12-24 hours and 24-36 hours of life) and graded as per ACNS guidelines. Results: There were no significant group differences in demographic, clinical, and laboratory variables except nonresponders, who had higher mean seizure score (P =.01) and significantly more injury on MRI scan for white matter (P =.004), parenchymal cortex (P =.027), and watershed (P =.009) regions. Neonates with moderately abnormal or severely abnormal background EEG responded poorly to phenobarbital. Conclusion: In the presence of above factors, one can anticipate that additional antiepileptic medication may be needed. These data also support that larger studies should be done to look prospectively at using alternative agents first line in patients with severe injury. [ABSTRACT FROM AUTHOR]
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- 2019
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63. Development of information sharing in language neocortex in childhood‐onset drug‐resistant epilepsy.
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Arya, Ravindra, Ervin, Brian, Wilson, J. Adam, Byars, Anna W., Rozhkov, Leonid, Buroker, Jason, Horn, Paul S., Scholle, Craig, Fujiwara, Hisako, Greiner, Hansel M., Leach, James L., Rose, Douglas F., Mangano, Francesco T., Glauser, Tracy A., and Holland, Katherine D.
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NEOCORTEX ,INFORMATION sharing ,EPILEPSY surgery ,INTELLIGENCE levels ,DRUG information materials ,EPILEPSY - Abstract
Summary: Objective: We studied age‐related dynamics of information sharing among cortical language regions with electrocorticographic high‐gamma modulation during picture‐naming and story‐listening tasks. Methods: Seventeen epilepsy patients aged 4‐19 years, undergoing extraoperative monitoring with left‐hemispheric subdural electrodes, were included. Mutual information (MI), a nondirectional measure of shared information, between 16 pairs of cortical regions of interest, was computed from trial‐averaged 70–150 Hz power modulations during language tasks. Impact of age on pairwise MI between language regions and their determinants were ascertained with regression analysis. Results: During picture naming, significant increase in MI with age was seen between pairwise combinations of Broca's area, inferior precentral gyrus (iPreC), and frontal association cortex (FAC); Wernicke's area and posterior association cortex (PAC); and Broca's and Wernicke's areas. During story listening, significant age‐related increase in MI was seen between Wernicke's area and either Broca's area, FAC, or PAC; and between Broca's area and FAC. Significant impact of baseline intelligence quotient was seen on the relationship between age and MI for all pairs, except between Broca's area and iPreC. The mean MI was higher during naming compared to listening for pairs including iPreC with Broca's area, FAC, or PAC and was lower for pairs of Wernicke's area or PAC with anterior language regions. Significance: Information sharing matures with age "within" frontal and temporoparietal language cortices, and "between" Broca's and Wernicke's areas. This study provides evidence for distinct patterns of developmental plasticity within perisylvian language cortex and has implications for planning epilepsy surgery. [ABSTRACT FROM AUTHOR]
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- 2019
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64. An infant with ETV6-NTRK3 fusion-positive congenital infantile fibrosarcoma and delayed response to conventional chemotherapy avoiding the need for TRK inhibition.
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Vedi, Aditi, Holland, Katherine, Cross, Justin, Muthusamy, Brinda, Behjati, Sam, Hook, C. Elizabeth, and Murray, Matthew J.
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- 2020
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65. Location: A surrogate for personalized treatment of sodium channelopathies.
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Holland, Katherine D., Bouley, Thomas M., and Horn, Paul S.
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SODIUM channels , *NEUROLOGICAL disorders , *VOLTAGE-gated ion channels , *MISSENSE mutation , *GENETICS of epilepsy , *GENE expression , *PHYSIOLOGY - Abstract
Voltage-gated sodium channels have been implicated in numerous inherited paroxysmal disorders of the nervous system, muscle, and heart. Our goal is to provide a framework that helps neurologists understand the clinical and treatment implications of sodium channel variants they encounter in clinical practice. This will be accomplished through our objectives of (1) recognizing the relationship between location of a missense sodium channel gene variant and its effect on channel function, and (2) categorizing clinical phenotype based on functional effect of a variant. The relationship between location, function, and treatment response is also discussed. These interactions can be illustrated by the sodium channelopathies seen in people with epilepsy but generalize beyond that disorder. Ann Neurol 2018;83:1-9. [ABSTRACT FROM AUTHOR]
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- 2018
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66. Electrocorticographic high‐gamma modulation with passive listening paradigm for pediatric extraoperative language mapping.
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Arya, Ravindra, Wilson, J. Adam, Fujiwara, Hisako, Vannest, Jennifer, Byars, Anna W., Rozhkov, Leonid, Leach, James L., Greiner, Hansel M., Buroker, Jason, Scholle, Craig, Horn, Paul S., Crone, Nathan E., Rose, Douglas F., Mangano, Francesco T., and Holland, Katherine D.
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PEDIATRIC drug therapy ,ELECTRODE testing ,TOPOGRAPHY ,SENSORY conflict ,ODDS ratio - Abstract
Summary: Objective: This prospective study compared the topography of high‐gamma modulation (HGM) during a story‐listening task requiring negligible patient cooperation, with the conventional electrical stimulation mapping (ESM) using a picture‐naming task, for presurgical language localization in pediatric drug‐resistant epilepsy. Methods: Patients undergoing extraoperative monitoring with subdural electrodes were included. Electrocorticographic signals were recorded during quiet baseline and a story‐listening task. The likelihood of 70‐ to 150‐Hz power modulation during the listening task relative to the baseline was estimated for each electrode and plotted on a cortical surface model. Sensitivity, specificity, accuracy, and diagnostic odds ratio (DOR) were estimated compared to ESM, using a meta‐analytic framework. Results: Nineteen patients (10 with left hemisphere electrodes) aged 4‐19 years were analyzed. HGM during story listening was observed in bilateral posterior superior temporal, angular, supramarginal, and inferior frontal gyri, along with anatomically defined language association areas. Compared to either cognitive or both cognitive and orofacial sensorimotor interference with naming during ESM, left hemisphere HGM showed high specificity (0.82‐0.84), good accuracy (0.66‐0.70), and DOR of 2.23 and 3.24, respectively. HGM was a better classifier of ESM language sites in the left temporoparietal cortex compared to the frontal lobe. Incorporating visual naming with the story‐listening task substantially improved the accuracy (0.80) and DOR (13.61) of HGM mapping, while the high specificity (0.85) was retained. In the right hemisphere, no ESM sites for aphasia were seen, and the results of HGM and ESM comparisons were not significant. Significance: HGM associated with story listening is a specific determinant of left hemisphere ESM language sites. It can be used for presurgical language mapping in children who cannot cooperate with conventional language tasks requiring active engagement. Incorporation of additional language tasks, if feasible, can further improve the diagnostic accuracy of language localization with HGM. [ABSTRACT FROM AUTHOR]
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- 2018
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67. Drug-resistant epilepsy in children with partial onset epilepsy treated with carbamazepine.
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Aungaroon, Gewalin, Holland, Katherine D., Horn, Paul S., Standridge, Shannon M., and Imming, Christina Mackell
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CHILDHOOD epilepsy , *CARBAMAZEPINE , *DRUG resistance , *DISEASE remission , *FOLLOW-up studies (Medicine) , *THERAPEUTICS - Abstract
Objective: To evaluate the outcome, including drug-resistant epilepsy (DRE) in children with newly diagnosed partial onset epilepsy treated with carbamazepine (CBZ).Methods: A retrospective medical records review and telephone questionnaire were undertaken on a total of 100 subjects.Results: Long-term follow-up was obtained on 79 children with a mean duration of 7.1 years from CBZ initiation. A total of 66 (83.5%) subjects achieved 2-year seizure remission, 48 (72.7%) subjects did so with CBZ monotherapy. Seven (10.6%) had seizure recurrence after 2-year seizure remission. DRE was diagnosed in seven (8.9%) subjects and five subjects had epilepsy surgery. The mean duration from seizure onset to epilepsy surgery was 5.3 (±2.1) years. Contributing factors for the prolonged duration from seizure onset to epilepsy surgery were identified including: relapsing–remitting course of seizure, family reluctance for epilepsy surgery and uncontrolled psychological problems.Conclusions: Over 80% of children with newly diagnosed partial onset epilepsy who were initially treated with CBZ achieved 2-year seizure remission, and more than 70% of this group did so with CBZ monotherapy. The majority of these patients maintained seizure remission overtime. However, 8.9% of this population met the criteria for DRE and most of them had epilepsy surgery. The duration from seizure onset to epilepsy surgery is an important potential area for improvement in DRE patient care. [ABSTRACT FROM PUBLISHER]
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- 2017
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68. Comparison and optimization of in silico algorithms for predicting the pathogenicity of sodium channel variants in epilepsy.
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Holland, Katherine D., Bouley, Thomas M., and Horn, Paul S.
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GENETICS of epilepsy , *SODIUM channels , *MICROBIAL virulence , *GENETIC testing , *HERITABILITY - Abstract
Objective Variants in neuronal voltage-gated sodium channel α-subunits genes SCN1A, SCN2A, and SCN8A are common in early onset epileptic encephalopathies and other autosomal dominant childhood epilepsy syndromes. However, in clinical practice, missense variants are often classified as variants of uncertain significance when missense variants are identified but heritability cannot be determined. Genetic testing reports often include results of computational tests to estimate pathogenicity and the frequency of that variant in population-based databases. The objective of this work was to enhance clinicians' understanding of results by (1) determining how effectively computational algorithms predict epileptogenicity of sodium channel ( SCN) missense variants; (2) optimizing their predictive capabilities; and (3) determining if epilepsy-associated SCN variants are present in population-based databases. This will help clinicians better understand the results of indeterminate SCN test results in people with epilepsy. Methods Pathogenic, likely pathogenic, and benign variants in SCNs were identified using databases of sodium channel variants. Benign variants were also identified from population-based databases. Eight algorithms commonly used to predict pathogenicity were compared. In addition, logistic regression was used to determine if a combination of algorithms could better predict pathogenicity. Results Based on American College of Medical Genetic Criteria, 440 variants were classified as pathogenic or likely pathogenic and 84 were classified as benign or likely benign. Twenty-eight variants previously associated with epilepsy were present in population-based gene databases. The output provided by most computational algorithms had a high sensitivity but low specificity with an accuracy of 0.52-0.77. Accuracy could be improved by adjusting the threshold for pathogenicity. Using this adjustment, the Mendelian Clinically Applicable Pathogenicity (M- CAP) algorithm had an accuracy of 0.90 and a combination of algorithms increased the accuracy to 0.92. Significance Potentially pathogenic variants are present in population-based sources. Most computational algorithms overestimate pathogenicity; however, a weighted combination of several algorithms increased classification accuracy to >0.90. [ABSTRACT FROM AUTHOR]
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- 2017
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69. Pediatric Epilepsy Surgery: The Prognostic Value of Central Nervous System Comorbidities in Patients and Their Families.
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Qualmann, Krista J., Spaeth, Christine G., Myers, Melanie F., Horn, Paul S., Holland, Katherine, Mangano, Francesco T., and Greiner, Hansel M.
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PEDIATRICS ,EPILEPSY surgery ,CENTRAL nervous system ,MENTAL health ,SURGICAL complications - Abstract
Central nervous system comorbidities have been identified in patients with epilepsy. Several of these comorbidities have been correlated with poor surgery outcomes in patient cohorts. The authors sought to determine if prevalence of comorbidities in pediatric epilepsy surgery patients and their families correlate with long-term seizure outcome in a cross-sectional analysis. Three-generation pedigrees were elicited to compare family history of epilepsy, ADHD, anxiety, autism, bipolar disorder, cognitive disability, depression, migraine, and motor disability to surgery outcomes in 52 patients. Proportions of affected patients and relatives were compared to general population comorbidity rates and the patients' most recent seizure outcome classification. Patients and families had significantly higher rates of comorbidities than the general population. Poorer long-term seizure outcomes following resective surgery were associated with autism or cognitive disability in patients. Together these data support evidence for a common pathophysiological mechanism between epilepsy and central nervous system comorbidities. [ABSTRACT FROM AUTHOR]
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- 2017
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70. Presurgical language localization with visual naming associated ECoG high- gamma modulation in pediatric drug-resistant epilepsy.
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Arya, Ravindra, Wilson, J. Adam, Fujiwara, Hisako, Rozhkov, Leonid, Leach, James L., Byars, Anna W., Greiner, Hansel M., Vannest, Jennifer, Buroker, Jason, Milsap, Griffin, Ervin, Brian, Minai, Ali, Horn, Paul S., Holland, Katherine D., Mangano, Francesco T., Crone, Nathan E., and Rose, Douglas F.
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BROCA'S area ,FRONTAL lobe ,LONGITUDINAL method ,SELF-perception ,ECHOLALIA - Abstract
Objective This prospective study compared presurgical language localization with visual naming-associated high-γ modulation ( HGM) and conventional electrical cortical stimulation ( ECS) in children with intracranial electrodes. Methods Patients with drug-resistant epilepsy who were undergoing intracranial monitoring were included if able to name pictures. Electrocorticography ( ECoG) signals were recorded during picture naming (overt and covert) and quiet baseline. For each electrode the likelihood of high-γ (70-116 Hz) power modulation during naming task relative to the baseline was estimated. Electrodes with significant HGM were plotted on a three-dimensional (3D) cortical surface model. Sensitivity, specificity, and accuracy were calculated compared to clinical ECS. Results Seventeen patients with mean age of 11.3 years (range 4-19) were included. In patients with left hemisphere electrodes (n = 10), HGM during overt naming showed high specificity (0.81, 95% confidence interval [ CI] 0.78-0.85), and accuracy (0.71, 95% CI 0.66-0.75, p < 0.001), but modest sensitivity (0.47) when ECS interference with naming (aphasia or paraphasic errors) and/or oral motor function was regarded as the gold standard. Similar results were reproduced by comparing covert naming-associated HGM with ECS naming sites. With right hemisphere electrodes (n = 7), no ECS-naming deficits were seen without interference with oral-motor function. HGM mapping showed a high specificity (0.81, 95% CI 0.78-0.84), and accuracy (0.76, 95% CI 0.71-0.81, p = 0.006), but modest sensitivity (0.44) compared to ECS interference with oral-motor function. Naming-associated ECoG HGM was consistently observed over Broca's area (left posterior inferior-frontal gyrus), bilateral oral/facial motor cortex, and sometimes over the temporal pole. Significance This study supports the use of ECoG HGM mapping in children in whom adverse events preclude ECS, or as a screening method to prioritize electrodes for ECS testing. [ABSTRACT FROM AUTHOR]
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- 2017
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71. Pharmacogenetics of antiepileptic drug efficacy in childhood absence epilepsy.
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Glauser, Tracy A., Holland, Katherine, O’Brien, Valerie P., Keddache, Mehdi, Martin, Lisa J., Clark, Peggy O., Cnaan, Avital, Dlugos, Dennis, Hirtz, Deborah G., Shinnar, Shlomo, Grabowski, Gregory, O'Brien, Valerie P, and Childhood Absence Epilepsy Study Group
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ANTICONVULSANTS , *CALCIUM , *COMPARATIVE studies , *CROSSOVER trials , *ELECTROENCEPHALOGRAPHY , *GENETIC polymorphisms , *GLYCOPROTEINS , *LONGITUDINAL method , *RESEARCH methodology , *MEDICAL cooperation , *HEALTH outcome assessment , *PETIT mal epilepsy , *PHARMACOGENOMICS , *RESEARCH , *RESEARCH funding , *EVALUATION research , *RANDOMIZED controlled trials , *BLIND experiment , *PHARMACODYNAMICS - Abstract
Objective: To determine whether common polymorphisms in CACNA1G, CACNA1H, CACNA1I, and ABCB1 are associated with differential short-term seizure outcome in childhood absence epilepsy (CAE).Methods: Four hundred forty-six CAE children in a randomized double-blind trial of ethosuximide, lamotrigine, and valproate had short-term seizure outcome determined. Associations between polymorphisms (minor allele frequency ≥ 15%) in 4 genes and seizure outcomes were assessed. In vitro electrophysiology on transfected CACNA1H channels determined impact of 1 variant on T-type calcium channel responsiveness to ethosuximide.Results: Eighty percent (357 of 446) of subjects had informative short-term seizure status (242 seizure free, 115 not seizure free). In ethosuximide subjects, 2 polymorphisms (CACNA1H rs61734410/P640L, CACNA1I rs3747178) appeared more commonly among not-seizure-free participants (p = 0.011, odds ratio [OR] = 2.63, 95% confidence limits [CL] = 1.25-5.56; p = 0.026, OR = 2.38, 95% CL = 1.11-5.00). In lamotrigine subjects, 1 ABCB1 missense polymorphism (rs2032582/S893A; p = 0.015, OR = 2.22, 95% CL = 1.16-4.17) was more common in not-seizure-free participants, and 2 CACNA1H polymorphisms (rs2753326, rs2753325) were more common in seizure-free participants (p = 0.038, OR = 0.52, 95% CL = 0.28-0.96). In valproate subjects, no common polymorphisms were associated with seizure status. In vitro electrophysiological studies showed no effect of the P640L polymorphism on channel physiology in the absence of ethosuximide. Ethosuximide's effect on rate of decay of CaV 3.2 was significantly less for P640L channel compared to wild-type channel.Interpretation: Four T-type calcium channel variants and 1 ABCB1 transporter variant were associated with differential drug response in CAE. The in vivo P640L variant's ethosuximide effect was confirmed by in vitro electrophysiological studies. This suggests that genetic variation plays a role in differential CAE drug response. Ann Neurol 2017;81:444-453. [ABSTRACT FROM AUTHOR]- Published
- 2017
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72. Adding Insult to Injury.
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Greiner, Mary V., Greiner, Hansel M., Caré, Marguerite M., Owens, Deanna, Shapiro, Robert, and Holland, Katherine
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ELECTROENCEPHALOGRAPHY ,SPASMS ,HEAD injuries ,CHILD abuse ,SUBARACHNOID hemorrhage ,MAGNETIC resonance imaging - Abstract
The primary objectives of this study were to determine the prevalence of nonconvulsive seizures and nonconvulsive status epilepticus in patients with abusive head trauma who underwent electroencephalography (EEG) monitoring and to describe predictive factors for this population. Children with a diagnosis of abusive head trauma were studied retrospectively to determine the rate of EEG monitoring, the rate of nonconvulsive seizures and nonconvulsive status epilepticus, and the associated neuroimaging findings. Over 11 years, 73 of 199 (36.8%) children with abusive head trauma had electroencephalography monitoring performed. Of these, 20 (27.4%) had nonconvulsive seizures and 3 (4.1%) had nonconvulsive status epilepticus. The presence of subarachnoid hemorrhage and cortical T2 / fluid-attenuated inversion recovery signal abnormalities were both significantly associated with the presence of nonconvulsive seizures / nonconvulsive status epilepticus. Nonconvulsive seizures are relatively common in abusive head trauma and may go unrecognized. Specific neuroimaging characteristics increase the likelihood of nonconvulsive seizures on EEG. [ABSTRACT FROM AUTHOR]
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- 2015
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73. Olfactory Bulbectomy Leads to the Development of Epilepsy in Mice.
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Jiang, Yifei, Pun, Raymund Y. K., Peariso, Katrina, Holland, Katherine D., Lian, Qingquan, and Danzer, Steve C.
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OLFACTORY nerve ,EPILEPSY ,LABORATORY mice ,MENTAL depression ,DATA analysis ,SURGERY - Abstract
There is a clear link between epilepsy and depression. Clinical data demonstrate a 30–35% lifetime prevalence of depression in patients with epilepsy, and patients diagnosed with depression have a three to sevenfold higher risk of developing epilepsy. Traditional epilepsy models partially replicate the clinical observations, with the demonstration of depressive traits in epileptic animals. Studies assessing pro-epileptogenic changes in models of depression, however, are more limited. Here, we examined whether a traditional rodent depression model—bilateral olfactory bulbectomy—predisposes the animals towards the development of epilepsy. Past studies have demonstrated increased neuronal excitability after bulbectomy, but continuous seizure monitoring had not been conducted. For the present study, we monitored control and bulbectomized animals by video-EEG 24/7 for approximately two weeks following the surgery to determine whether they develop spontaneous seizures. All seven bulbectomized mice exhibited seizures during the monitoring period. Seizures began about one week after surgery, and occurred in clusters with severity increasing over the monitoring period. These results suggest that olfactory bulbectomy could be a useful model of TBI-induced epilepsy, with advantages of relatively rapid seizure onset and a high number of individuals developing the disease. The model may also be useful for investigating the mechanisms underlying the bidirectional relationship between epilepsy and depression. [ABSTRACT FROM AUTHOR]
- Published
- 2015
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74. Predictors of Response to Vagus Nerve Stimulation in Childhood-Onset Medically Refractory Epilepsy.
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Arya, Ravindra, Greiner, Hansel M., Lewis, Amanda, Horn, Paul S., Mangano, Francesco T., Gonsalves, Cornelia, and Holland, Katherine D.
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VAGUS nerve ,NEURAL stimulation ,EPILEPSY research ,SPASMS ,SEIZURES (Medicine) - Abstract
This study explored predictors of response to vagus nerve stimulation in childhood-onset epilepsy. This retrospective chart review included all patients with new vagus nerve stimulator insertion between January 1, 2006, and December 31, 2011. Primary outcome was change in seizure frequency classified on the International League Against Epilepsy scale. Overall, 67.4% (95% confidence limits 53.3%-81.6%) of the patients had outcome of class 4 or better, and 4 patients (9.3%, 95% confidence interval 0.5%-18.1%) achieved complete seizure freedom (mean follow-up 3.5 y). Absence of magnetic resonance imaging (MRI) lesion (odds ratio 6.068, 95% confidence interval 1.214-30.329, P = .028) and duration of epilepsy before implantation (odds ratio 1.291, 95% confidence interval 1.015-1.642, P = .038) were found to be statistically significant predictors of good outcome and provided a sufficient fit to the data (area under the receiver operating characteristic curve .80, Hosmer-Lemeshow goodness of fit P = .92). This study provides preliminary evidence that nonlesional patients are significantly more likely to have better outcome with vagus nerve stimulation. [ABSTRACT FROM PUBLISHER]
- Published
- 2014
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75. A Statistical Approach for Visualizing the Quality of Multi-Hospital Data.
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Connolly, Brian, Faist, Robert, West, Constance, Holland, Katherine D., Matykiewicz, Pawel, Glauser, Tracy A., and Pestian, John
- Abstract
The age of Big Data and the associated proliferation of large data sets have necessitated the development of methods that allow for an easy interpretation of data analysis results. Such methods are usually the product of a symbiotic relationship between the helds of data visualization, infographics, and statistics. In this work we explore the interplay between data visualization and the mathematical framework used to analyze inter-hospital differences in database queries. Such differences can reflect disparities in the quality of care or more fundamental disparities in data quality. As the volume of queries is large and increasing, it is important to develop an incisive way of visualizing these differences. Specifically, we demonstrate the importance of choosing a mathematical framework that calculates the statistics necessary to visualize the results in a maximally concise and intuitive way. We derive symbolic statistical representations of inter-hospital query differences using a Bayesian probabilistic formalism to indicate statistically significant discrepancies. These statistical representations serve the need for visual representation of differences and their meaning apart from statistical expertise. The calculations were performed with a publically-available package, DQM, available at http://sourceforge.net/projects/databasequalitymanagement. [ABSTRACT FROM AUTHOR]
- Published
- 2014
76. Magnetic resonance imaging abnormalities in the resection region correlate with histopathological type, gliosis extent, and postoperative outcome in pediatric cortical dysplasia.
- Author
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LEACH, JAMES L., MILES, LILI, HENKEL, DAVID M., GREINER, HANSEL M., KUKREJA, MARCIA K., HOLLAND, KATHERINE D., ROSE, DOUGLAS F., BIN ZHANG, and MANGANO, FRANCESCO T.
- Published
- 2014
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77. Acute postoperative seizures and long-term outcome following pediatric epilepsy surgery.
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Greiner, Hansel M., Horn, Paul S., Arya, Ravindra, Holland, Katherine, Turner, Michele, Alsaidi, Mohammed H., Leach, James L., and Mangano, Francesco T.
- Abstract
Abstract: Purpose: Acute post-operative seizures (APOS) after epilepsy surgery, previously believed to be benign, are increasingly associated with poor long-term prognosis. Prior literature has focused primarily on adult temporal lobe epilepsy. This retrospective study aimed to identify the prevalence, prognostic significance and risk factors for APOS in pediatric epilepsy surgery at a single center. Method: Retrospective chart review of all children aged 0–21 years undergoing resective surgery for epilepsy between 2009 and 2012 at a single center. APOS were defined as seizures within 30 days of resection. Surgical outcome was determined, using a minimum of 12 months postoperative follow-up for inclusion. Results: APOS, defined as a seizure within 30 days of resection, were identified in 50/112 (44%) of patients. APOS were a significant predictor of poor postoperative seizure outcome (ILAE 4–6); only 26% of those with APOS had a good outcome (ILAE 1–3), compared to 76% without APOS. Timing of postoperative seizure was not correlated with outcome. Most (54%) with APOS and good outcome had continued seizures between 14-30 days postoperatively. Patients with APOS after temporal (p =0.05) and extratemporal (p <0.001) resections had a significantly worse prognosis. APOS after hemispherectomy were not associated with a worse prognosis (p =0.22). Key risk factors for APOS include lack of ictal EEG lateralization to operated hemisphere/side of MRI abnormality. Conclusion: This study shows an association between APOS and poor outcome in both temporal and extratemporal pediatric epilepsy surgery. Findings support the expansion of APOS duration to 30 days. [Copyright &y& Elsevier]
- Published
- 2014
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78. Anesthetic techniques for fetal surgery: effects of maternal anesthesia on intraoperative fetal outcomes in a sheep model.
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Ngamprasertwong, Pornswan, Michelfelder, Erik C, Arbabi, Shahriar, Choi, Yun Suk, Statile, Christopher, Ding, Lili, Boat, Anne, Eghtesady, Pirooz, Holland, Katherine, and Sadhasivam, Senthilkumar
- Published
- 2013
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79. Impact of Corticosterone Treatment on Spontaneous Seizure Frequency and Epileptiform Activity in Mice with Chronic Epilepsy.
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Castro, Olagide W., Santos, Victor R., Pun, Raymund Y. K., Mcklveen, Jessica M., Batie, Matthew, Holland, Katherine D., Gardner, Margaret, Garcia-Cairasco, Norberto, Herman, James P., Danzer, Steve C., and Hou, Bing
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CORTICOSTERONE ,EPILEPSY research ,PSYCHOLOGICAL stress research ,SPASMS ,GLUCOCORTICOIDS ,MINERALOCORTICOIDS - Abstract
Stress is the most commonly reported precipitating factor for seizures in patients with epilepsy. Despite compelling anecdotal evidence for stress-induced seizures, animal models of the phenomena are sparse and possible mechanisms are unclear. Here, we tested the hypothesis that increased levels of the stress-associated hormone corticosterone (CORT) would increase epileptiform activity and spontaneous seizure frequency in mice rendered epileptic following pilocarpine-induced status epilepticus. We monitored video-EEG activity in pilocarpine-treated mice 24/7 for a period of four or more weeks, during which animals were serially treated with CORT or vehicle. CORT increased the frequency and duration of epileptiform events within the first 24 hours of treatment, and this effect persisted for up to two weeks following termination of CORT injections. Interestingly, vehicle injection produced a transient spike in CORT levels -- presumably due to the stress of injection -- and a modest but significant increase in epileptiform activity. Neither CORT nor vehicle treatment significantly altered seizure frequency; although a small subset of animals did appear responsive. Taken together, our findings indicate that treatment of epileptic animals with exogenous CORT designed to mimic chronic stress can induce a persistent increase in interictal epileptiform activity. [ABSTRACT FROM AUTHOR]
- Published
- 2012
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80. When Should Clinicians Order Genetic Testing for Dravet Syndrome?
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Fountain-Capal, Jamie K., Holland, Katherine D., Gilbert, Donald L., and Hallinan, Barbara E.
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CHILDHOOD epilepsy , *HUMAN chromosome abnormality diagnosis , *SODIUM channels , *GENETIC mutation , *PHENOTYPES , *DISEASE susceptibility , *DISEASE exacerbation , *THERAPEUTICS - Abstract
Abstract: The role of neuronal voltage-gated sodium channel, α-1 subunit (SCN1A) gene mutations in Dravet syndrome is well-established. With a broader phenotype than initially described, some patients lack features of Dravet syndrome as defined by the International League Against Epilepsy. We evaluated the predictive value of International League Against Epilepsy criteria for a positive mutation in a cohort of consecutively tested children. Mutations of SCN1A were evident in 16 of 69 children. Exhibiting ≥4 International League Against Epilepsy criteria demonstrated 100% sensitivity. Seven criteria (resistance to multiple antiepileptic drugs, multiple seizure types, abnormal electroencephalogram features, exacerbation with hyperthermia, normal development before seizure onset, seizures beginning before age 1 year, and psychomotor retardation) were present in ≥85% of mutation-positive cases. The three criteria that best predicted a mutation in SCN1A included exacerbation with hyperthermia, normal development before seizure onset, and the appearance of ataxia, pyramidal signs, or interictal myoclonus. We have demonstrated a high-sensitivity testing strategy for detecting mutations of SCN1A in children with suspected Dravet syndrome. [Copyright &y& Elsevier]
- Published
- 2011
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81. Cardiac Arrhythmias and Ictal Events Within an Epilepsy Monitoring Unit
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Standridge, Shannon M., Holland, Katherine D., and Horn, Paul S.
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ARRHYTHMIA in children , *CHILDHOOD epilepsy , *ELECTRONOGRAPHY , *HEALTH services administration , *HEART diseases , *DIAGNOSIS of epilepsy , *ARRHYTHMIA , *ELECTROCARDIOGRAPHY , *ELECTROENCEPHALOGRAPHY , *EPILEPSY , *RESEARCH funding , *COMORBIDITY , *DISEASE incidence , *DISEASE prevalence , *RETROSPECTIVE studies , *SEVERITY of illness index - Abstract
The aim of this study was to determine the incidence and describe the factors influencing ictal cardiac arrhythmias in children with epilepsy. A 2-year review within a pediatric epilepsy monitoring unit revealed 2066 electrographically confirmed seizures in 139 patients. Demographic, seizure, and cardiac variables were collected for each patient. Fisher''s exact test, Wilcoxon rank-sum test, and Spearman''s rank correlation coefficient were used to identify significant differences and associations at the seizure and patient levels. In 244 seizures meeting inclusion criteria, ictal cardiac arrhythmias were seen in 45% of the seizures (40% of the patients). The most common arrhythmia was benign respiratory sinus arrhythmia (78% of seizures with arrhythmias, 70% of patients with arrhythmias). Potentially serious arrhythmias included irregular variable arrhythmias, and abnormal QRS intervals were seen in 12% of all the patients. In seizures with ictal arrhythmias, 64% occurred in male patients (P = 0.016) and 78% occurred in white patients (P = 0.013). This study estimates the incidence of ictal arrhythmias within the pediatric population that need further medical attention and management. [Copyright &y& Elsevier]
- Published
- 2010
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82. Spinal tumors in neurofibromatosis-2: Management considerations – a review.
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Holland, Katherine and Kaye, Andrew H.
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NEUROFIBROMATOSIS ,INTRACRANIAL tumors ,ACOUSTIC neuroma ,MEDICAL imaging systems - Abstract
Abstract: Neurofibromatosis Type 2 (NF-2) is a distinct clinical entity, characterized by multiple intracranial and spinal tumors. While bilateral vestibular schwannomas are the pathological hallmark of the disease, significant morbidity in NF-2 is attributable to the presence of both intramedullary and extramedullary spinal tumors. With the advent of MRI as a screening modality, multiple, extensive spinal tumors in the NF-2 population are often seen, which may be clinically quiescent at the time of initial diagnosis. All NF-2 patients should have routine screening with full spinal MRI at the time of diagnosis, regardless of symptoms. Early surgical intervention is indicated in cases where a neurological deficit is attributable to a focal expanding spinal lesion. In asymptomatic patients, the decision to operate is tailored to the individual patient, with the ultimate goal of preserving function. In these cases, surgery should be considered where there is evidence of progressive tumor growth, with attendant risk to the patient of functional deterioration. [Copyright &y& Elsevier]
- Published
- 2009
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83. Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy
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Holland, Katherine D., Kearney, Jennifer A., Glauser, Tracy A., Buck, Gerri, Keddache, Mehdi, Blankston, John R., Glaaser, Ian W., Kass, Robert S., and Meisler, Miriam H.
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DEVELOPMENTAL disabilities , *BRAIN diseases , *SEIZURES (Medicine) , *AMINO acids - Abstract
Abstract: Mutations in the sodium channel genes SCN1A and SCN2A have been identified in monogenic childhood epilepsies, but SCN3A has not previously been investigated as a candidate gene for epilepsy. We screened a consecutive cohort of 18 children with cryptogenic partial epilepsy that was classified as pharmacoresistant because of nonresponse to carbamazepine or oxcarbazepine, antiepileptic drugs that bind sodium channels. The novel coding variant SCN3A-K354Q was identified in one patient and was not present in 295 neurological normal controls. Twelve novel SNPs were also detected. K354Q substitutes glutamine for an evolutionarily conserved lysine residue in the pore domain of SCN3A. Functional analysis of this mutation in the backbone of the closely related gene SCN5A demonstrated an increase in persistent current that is similar in magnitude to epileptogenic mutations of SCN1A and SCN2A. This observation of a potentially pathogenic mutation of SCN3A (Nav1.3) indicates that this gene should be further evaluated for its contribution to childhood epilepsy. [Copyright &y& Elsevier]
- Published
- 2008
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84. Use of Topiramate in Localization-Related Epilepsy in Children.
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Holland, Katherine D. and Wyllie, Elaine
- Published
- 2000
85. High‐gamma modulation language mapping and cognitive outcomes after epilepsy surgery.
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Ervin, Brian, Kargol, Christina, Byars, Anna W., Buroker, Jason, Rozhkov, Leonid, Skoch, Jesse, Mangano, Francesco T., Greiner, Hansel M., Horn, Paul S., Holland, Katherine, and Arya, Ravindra
- Subjects
- *
EPILEPSY surgery , *COGNITION , *SHORT-term memory , *VERBAL learning , *ELECTRIC stimulation , *TEMPORAL lobectomy - Abstract
Objective Methods Results Significance We evaluated changes in cognitive domains after neurosurgical lesioning of cortical sites with significant high‐gamma power modulations (HGM) during a visual naming task, although these sites were found language‐negative on standard‐of‐care electrical stimulation mapping (ESM).In drug‐resistant epilepsy patients who underwent resection/ablation after stereo‐electroencephalography (SEEG), we computed reliable change indices (RCIs) from a battery of presurgical and 1‐year postsurgical neuropsychological assessments. We modeled RCIs as a function of lesioning even one HGM language site, number of HGM language sites lesioned, and the magnitude of naming‐related HGM. The analyses were adjusted for 1‐year seizure freedom, operated hemispheres, and the volumes of surgical lesions.In 37 patients with 4455 SEEG electrode contacts (1839 and 2616 contacts in right and left hemispheres, respectively), no ESM language sites were lesioned. Patients with lesioning of even one HGM language site showed significantly lower RCIs for Peabody Picture Vocabulary Test (PPVT), working memory, and verbal learning immediate (VLI) scores. RCI declines with higher number of HGM language sites lesioned were seen in PPVT (slope [β] = −.10), working memory (β = −.10), VLI (β = −.14), and letter–word identification (LWI; β = −.14). No neuropsychological domains improved after lesioning of HGM language sites. Significant effects of the HGM magnitude at lesioned sites were seen on working memory (β = −.31), story memory immediate (β = −.27), verbal learning recognition (β = −.18), LWI (β = −.16), spelling (β = −.49), and passage comprehension (β = −.33). Because working memory was significantly affected in all three analyses, patients with maximal working memory decline were examined post hoc, revealing that all such patients had HGM naming sites lesioned in the posterior quadrants of either hemisphere.HGM language mapping should be used as an adjunct to ESM in clinical practice and may help counsel patients/families about postsurgical cognitive deficits. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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86. Corpus callosotomy for treatment of pediatric refractory status epilepticus.
- Author
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Greiner, Hansel M., Tillema, Jan-Mendelt, Hallinan, Barbara E., Holland, Katherine, Lee, Ki-Hyeong, and Crone, Kerry R.
- Abstract
Abstract: Medically refractory status epilepticus (RSE) causes high morbidity and mortality in children. There are no evidence-based guidelines for treatment. Epilepsy surgery is a treatment option for RSE. We describe a 9-year-old boy treated successfully for RSE with complete corpus callosotomy (CC). Epilepsy surgery should be considered for prolonged RSE. In the absence of evidence of focal epileptogenesis, complete corpus callosotomy may be effective in select cases. [Copyright &y& Elsevier]
- Published
- 2012
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87. Experiences in Physical Education with Bardet-Biedl Syndrome: An Interpretative Phenomenological Analysis Case Study.
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Holland, Katherine, Haegele, Justin A., Zhu, Xihe, and Brady, Ellie
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LAURENCE-Moon-Biedl syndrome , *PHYSICAL education , *PHYSICAL education teachers , *TEACHER influence , *SOCIAL interaction , *AUTOBIOGRAPHICAL memory , *PEER pressure - Abstract
The purpose of this study was to examine physical education (PE) experiences from the perspective of an adult with Bardet-Biedl syndrome. An interpretative phenomenological analysis (IPA) research approach was used, and one male (age 32) with Bardet-Biedl syndrome acted as the participant. Sources of data included a semi-structured, audiotaped telephone interview and reflective interview notes. The interview was transcribed verbatim and data were analyzed thematically using a two-step approach informed by the IPA. Three themes emerged from the data: (a) "We were pretty much good friends": The teacher's influence, (b) "You're different, must destroy": Bullying and negative peer interactions, and (c) "I could never see the damn thing coming": Inappropriate and inaccessible activities. These themes provide unique insights into how an individual with Bardet-Biedl syndrome experienced PE. Generally, the participant recalled negative experiences with regards to peer interaction and an inability to participate, but positive memories of one physical educator. [ABSTRACT FROM AUTHOR]
- Published
- 2020
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88. Phase‐Transitions in Disgust During Self‐Initiated Eating Among Adolescents With Anorexia Nervosa and Related Low‐Weight Eating Disorders and Matched Controls.
- Author
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Hildebrandt, Tom, Boyar, Allison, Chen, Xi, Holland, Katherine, Silverman, Elena, Webb, Desiree, Wolk, Sophia, Schulz, Kurt, and Sysko, Robyn
- Subjects
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EMOTIONAL eating , *BULIMIA , *ANOREXIA nervosa , *EATING disorders , *AVERSION , *STRUCTURAL equation modeling , *FACIAL expression - Abstract
ABSTRACT Background Methods Results Discussion Understanding the emotional context of feeding behavior may help identify causal mechanisms of food avoidance among individuals with anorexia nervosa. Although predominant food avoidance models assume fear of fat drives feeding behavior, disgust may be more theoretically and proximally relevant to moment‐to‐moment experiences of feeding. This study, therefore, aimed to examine affect and food avoidance using automated affect analysis from facial response by measuring time‐specific transitions in disgust during a laboratory eating paradigm. We hypothesized that phase transitions in disgust would distinguish temporally self‐initiated eating from food avoidance.Sixty‐three adolescents with anorexia nervosa or another low‐weight eating disorder (LWED) and 27 age‐ and sex‐matched controls were recruited as part of a larger study; 45 patients and 22 controls provided data on autonomous eating and facial affect during a laboratory meal. Dynamic structural equation models quantified moment‐to‐moment relationships between disgust and feeding behavior.Self‐initiated eating was associated with greater increases in disgust, but not fear, intensity among those with LWED relative to control participants and greater disgust intensity predicted lower likelihood of self‐initiated eating.Phasic transitions in disgust provide moment‐to‐moment evidence of affective influence on self‐initiated eating and lend credibility to the hypothesis that disgust contributes to food avoidance and initiation in individuals with LWED. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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- View/download PDF
89. In Silico Predictions of KCNQ Variant Pathogenicity in Epilepsy.
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Ritter, David M., Horn, Paul S., and Holland, Katherine D.
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EPILEPSY , *PREDICTION models , *FORECASTING , *PHENOTYPES , *AMINO acids - Abstract
Background: Variants in KCNQ2 and KCNQ3 may cause benign neonatal familial seizures and early infantile epileptic encephalopathy. Previous reports suggest that in silico models cannot predict pathogenicity accurately enough for clinical use. Here we sought to establish a model to accurately predict the pathogenicity of KCNQ2 and KCNQ3 missense variants based on available in silico prediction models.Methods: ClinVar and gnomAD databases of reported KCNQ2 and KCNQ3 missense variants in patients with neonatal epilepsy were accessed and classified as benign, pathogenic, or of uncertain significance. Sensitivity, specificity, and classification accuracy for prediction of pathogenicity were determined and compared for 10 widely used prediction algorithms program. A mathematical model of the variants (KCNQ Index) was created using their amino acid location and prediction algorithm scores to improve prediction accuracy.Results: Using clinically characterized variants, the free online tool PROVEAN accurately predicted pathogenicity 92% of the time and the KCNQ Index had an accuracy of 96%. However, when including the gnomAD database as benign variants, only the KCNQ Index was able to predict pathogenicity with an accuracy greater than 90% (sensitivity = 93% and specificity = 98%). No model could accurately predict the phenotype of variants.Conclusion: We show that KCNQ channel variant pathogenicity can be predicted by a novel KCNQ Index in neonatal epilepsy. However, more work is needed to accurately predict the patient's epilepsy phenotype from in silico algorithms. [ABSTRACT FROM AUTHOR]- Published
- 2021
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90. What causes epileptic encephalopathy in infancy?: the answer may lie in our genes.
- Author
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Holland KD, Hallinan BE, Holland, Katherine D, and Hallinan, Barbara E
- Published
- 2010
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91. Seizure exacerbation associated with oxcarbazepine in idiopathic focal epilepsy of childhood.
- Author
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Chapman K, Holland K, Erenberg G, Chapman, Kevin, Holland, Katherine, and Erenberg, Gerald
- Published
- 2003
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92. Clinical validation of magnetoencephalography network analysis for presurgical epilepsy evaluation.
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Fujiwara, Hisako, Kadis, Darren S., Greiner, Hansel M., Holland, Katherine D., Arya, Ravindra, Aungaroon, Gewalin, Fong, Susan L., Arthur, Todd M., Kremer, Kelly M., Lin, Nan, Liu, Wei, Mangano, Francesco T., Skoch, Jesse, Horn, Paul S., and Tenney, Jeffrey R.
- Subjects
- *
MAGNETOENCEPHALOGRAPHY , *EPILEPSY , *FUNCTIONAL connectivity , *STEREOTAXIC techniques , *PEDIATRIC surgery , *CLUSTER analysis (Statistics) , *FUNCTIONAL analysis - Abstract
• Primary hub was significantly closer to the stereotactic EEG-defined seizure onset zone compared to the center of ECD cluster. • Both ECD cluster and network analyses suggested that spatially restricted region correlate with better seizure outcomes. • Our findings suggest that magnetoencephalography network analysis could be a valuable complement to the conventional ECD method. To clinically validate the connectivity-based magnetoencephalography (MEG) analyses to identify seizure onset zone (SOZ) with comparing to equivalent current dipole (ECD). The ECD cluster was quantitatively analyzed by calculating the centroid of the cluster and maximum distance (the largest distance between all dipoles). The "primary hub" was determined by the highest eigencentrality. The distribution of nodes in the top 5% of eigenvector centrality values was quantified by generating the convex hull between each node. Thirty-one patients who underwent MEG, stereotactic-EEG, and focal surgery were included. The primary hub was significantly closer to the sEEG-defined SOZ compared to ECD (p = 0.009). The seizure freedom positive and negative predictive values of complete ECD cluster and primary hub resections did not significantly differ, although complete resection of the primary hub showed slightly better negative predictive value (ECD: 50.0% NPV, hub: 64.7% NPV). Both quantitative ECD and functional connectivity analyses suggested that spatially restricted dipole distributions and higher connectivity in a smaller region correlate with better seizure outcomes. Our findings suggest that MEG network analysis could be a valuable complement to the ECD methods. The results of this study are an important step towards using non-invasive neurophysiologic recordings to accurately define the epileptic network. [ABSTRACT FROM AUTHOR]
- Published
- 2022
- Full Text
- View/download PDF
93. Novel SCN3A variants associated with focal epilepsy in children.
- Author
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Vanoye, Carlos G., Gurnett, Christina A., Holland, Katherine D., George, Alfred L., and Kearney, Jennifer A.
- Subjects
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CHILDHOOD epilepsy , *SODIUM channels , *ACTION potentials , *MISSENSE mutation , *BRAIN physiology , *BIOPHYSICS - Abstract
Abstract: Voltage-gated sodium (NaV) channels are essential for initiating and propagating action potentials in the brain. More than 800 mutations in genes encoding neuronal NaV channels including SCN1A and SCN2A have been associated with human epilepsy. Only one epilepsy-associated mutation has been identified in SCN3A encoding the NaV1.3 neuronal sodium channel. We performed a genetic screen of pediatric patients with focal epilepsy of unknown cause and identified four novel SCN3A missense variants: R357Q, D766N, E1111K and M1323V. We determined the functional consequences of these variants along with the previously reported K354Q mutation using heterologously expressed human NaV1.3. Functional defects were heterogeneous among the variants. The most severely affected was R357Q, which had a significantly smaller current density and slower activation than the wild-type (WT) channel as well as depolarized voltage dependences of activation and inactivation. Also notable was E1111K, which evoked a significantly greater level of persistent sodium current than WT channels. Interestingly, a common feature shared by all variant channels was increased current activation in response to depolarizing voltage ramps revealing a functional property consistent with conferring neuronal hyper-excitability. Discovery of a common biophysical defect among variants identified in unrelated pediatric epilepsy patients suggests that SCN3A may contribute to neuronal hyperexcitability and epilepsy. [Copyright &y& Elsevier]
- Published
- 2014
- Full Text
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94. Discontinuation of Medications After Successful Epilepsy Surgery in Children
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Lachhwani, Deepak K., Loddenkemper, Tobias, Holland, Katherine D., Kotagal, Prakash, Mascha, Edward, Bingaman, William, and Wyllie, Elaine
- Subjects
- *
DEVELOPMENTAL disabilities , *EPILEPSY , *BRAIN diseases , *SEIZURES (Medicine) - Abstract
To evaluate the need for antiepileptic drugs after successful epilepsy surgery in pediatric patients, we retrospectively reviewed patients who had epilepsy surgery and were seizure free or had rare nondisabling auras during the first 6 postoperative months. Association between drug discontinuation and seizure recurrence was evaluated using Cox proportional hazards multivariable survival analysis. Medications were withdrawn in 68 of 97 patients, seizure free (or with rare nondisabling auras) for >6 months after surgery; 57 of the 68 (84%) remained seizure free; the other 11 (16%) had seizure recurrence after 68 months (median). Seizure recurrence was controlled with medication in 7 of the 11 patients (3 have rare seizures, 1 frequent auras). Discontinuing medications at <6 mo, compared with later or no withdrawal, had significant risk for seizure recurrence (hazard ratio 5.8; 95% confidence interval 1.8, 17.5; P = 0.003). Of 29 patients who continued drugs, 28 (97%) remained seizure free after 37 months (median). Freedom from seizures 6 months after surgery predicted good outcome (95% seizure free, with or without medication). If discontinuation is offered after 6 months, the majority of patients (84%) can be expected to remain seizure free with no further need for medication. Although seizure breakthrough is possible in a smaller percentage, restarting drugs is likely to restore seizure control. [Copyright &y& Elsevier]
- Published
- 2008
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95. A distributed network supports spatiotemporal cerebral dynamics of visual naming.
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Ervin, Brian, Buroker, Jason, Byars, Anna W., Rozhkov, Leonid, Leach, James L., Horn, Paul S., Scholle, Craig, Mangano, Francesco T., Greiner, Hansel M., Holland, Katherine D., Glauser, Tracy A., and Arya, Ravindra
- Subjects
- *
LARGE-scale brain networks , *LIMBIC system , *CEREBRAL hemispheres , *SOCIAL networks , *OCCIPITAL lobe - Abstract
• During visual naming, high-gamma modulation occurs in a posteroanterior sequential pattern with overlapping temporal profiles. • Cortical activations during visual naming represent cognitive sub-components with different relative contributions from the left and right cerebral hemispheres. • Post-surgical neuropsychological deficits correlated with the location of resected parcels within the visual naming network. Cerebral spatiotemporal dynamics of visual naming were investigated in epilepsy patients undergoing stereo-electroencephalography (SEEG) monitoring. Brain networks were defined by Parcel-Activation-Resection-Symptom matching (PARS) approach by matching high-gamma (50–150 Hz) modulations (HGM) in neuroanatomic parcels during visual naming, with neuropsychological outcomes after resection/ablation of those parcels. Brain parcels with >50% electrode contacts simultaneously showing significant HGM were aligned, to delineate spatiotemporal course of naming-related HGM. In 41 epilepsy patients, neuroanatomic parcels showed sequential yet temporally overlapping HGM course during visual naming. From bilateral occipital lobes, HGM became increasingly left lateralized, coursing through limbic system. Bilateral superior temporal HGM was noted around response time, and right frontal HGM thereafter. Correlations between resected/ablated parcels, and post-surgical neuropsychological outcomes showed specific regional groupings. Convergence of data from spatiotemporal course of HGM during visual naming, and functional role of specific parcels inferred from neuropsychological deficits after resection/ablation of those parcels, support a model with six cognitive subcomponents of visual naming having overlapping temporal profiles. Cerebral substrates supporting visual naming are bilaterally distributed with relative hemispheric contribution dependent on cognitive demands at a specific time. PARS approach can be extended to study other cognitive and functional brain networks. [ABSTRACT FROM AUTHOR]
- Published
- 2021
- Full Text
- View/download PDF
96. The Diagnostic Accuracy of Video Electroencephalography Without Event Capture.
- Author
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Knox, Andrew, Arya, Ravindra, Horn, Paul S., and Holland, Katherine
- Subjects
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ELECTROENCEPHALOGRAPHY , *DIAGNOSIS of epilepsy , *CHILDREN'S hospitals , *PEDIATRIC neurology , *CEREBRAL palsy , *BRAIN , *EPILEPSY , *LONGITUDINAL method , *VIDEO recording , *RETROSPECTIVE studies - Abstract
Objective: The aim of this study was to quantify the accuracy of 24-hour video electroencephalography (vEEG) for the diagnosis of epilepsy when a patient's typical paroxysmal event was not captured (no-event vEEG).Methods: We performed a retrospective chart review of all first-time 24 hour no-event vEEG studies at Cincinnati Children's Hospital Medical Center. Clinician diagnosis of epilepsy with a minimum of one year follow-up was used as the reference standard to calculate diagnostic accuracy. Sensitivity and specificity of routine EEG (rEEG) and vEEG were compared in patients with both studies, and factors affecting the accuracy of vEEG were explored with a multivariable analysis.Results: No-event vEEG showed sensitivity of 0.54 (95% confidence interval [CI] 0.44 to 0.64) and specificity of 0.88 (95% CI 0.84 to 0.92) respectively, with a diagnostic odds ratio of 7.53 (95% CI 4.45 to 12.76). The sensitivity of vEEG was statistically superior to that of rEEG, whereas specificity was comparable. Age emerged as the only factor that affected the diagnostic accuracy of no-event vEEG.Conclusion: Even in the absence of a typical seizure or spell, video EEG is a useful test for predicting or excluding epilepsy, with diagnostic accuracy that is superior to rEEG and unaffected by the presence of a chronic neurological condition. [ABSTRACT FROM AUTHOR]- Published
- 2018
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97. PTEN deletion increases hippocampal granule cell excitability in male and female mice.
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Santos, Victor R., Pun, Raymund Y.K., Arafa, Salwa R., LaSarge, Candi L., Rowley, Shane, Khademi, Shadi, Bouley, Tom, Holland, Katherine D., Garcia-Cairasco, Norberto, and Danzer, Steve C.
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PTEN protein , *MTOR inhibitors , *GRANULE cells , *EPILEPSY , *GENE knockout - Abstract
Deletion of the mTOR pathway inhibitor PTEN from postnatally-generated hippocampal dentate granule cells causes epilepsy. Here, we conducted field potential, whole cell recording and single cell morphology studies to begin to elucidate the mechanisms by which granule cell-specific PTEN-loss produces disease. Cells from both male and female mice were recorded to identify sex-specific effects. PTEN knockout granule cells showed altered intrinsic excitability, evident as a tendency to fire in bursts. PTEN knockout granule cells also exhibited increased frequency of spontaneous excitatory synaptic currents (sEPSCs) and decreased frequency of inhibitory currents (sIPSCs), further indicative of a shift towards hyperexcitability. Morphological studies of PTEN knockout granule cells revealed larger dendritic trees, more dendritic branches and an impairment of dendrite self-avoidance. Finally, cells from both female control and female knockout mice received more sEPSCs and more sIPSCs than corresponding male cells. Despite the difference, the net effect produced statistically equivalent EPSC/IPSC ratios. Consistent with this latter observation, extracellularly evoked responses in hippocampal slices were similar between male and female knockouts. Both groups of knockouts were abnormal relative to controls. Together, these studies reveal a host of physiological and morphological changes among PTEN knockout cells likely to underlie epileptogenic activity. Significance statement Hyperactivation of the mTOR pathway is associated with numerous neurological diseases, including autism and epilepsy. Here, we demonstrate that deletion of the mTOR negative regulator, PTEN, from a subset of hippocampal dentate granule impairs dendritic patterning, increases excitatory input and decreases inhibitory input. We further demonstrate that while granule cells from female mice receive more excitatory and inhibitory input than males, PTEN deletion produces mostly similar changes in both sexes. Together, these studies provide new insights into how the relatively small number (≈ 200,000) of PTEN knockout granule cells instigates the development of the profound epilepsy syndrome evident in both male and female animals in this model. [ABSTRACT FROM AUTHOR]
- Published
- 2017
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98. Vagus Nerve Stimulation for Electrographic Status Epilepticus in Slow-Wave Sleep.
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Carosella, Christopher M., Greiner, Hansel M., Byars, Anna W., Arthur, Todd M., Leach, James L., Turner, Michele, Holland, Katherine D., Mangano, Francesco T., and Arya, Ravindra
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VAGUS nerve , *ELECTRONOGRAPHY , *DECISION making , *NEURAL stimulation , *EPILEPSY surgery , *STATUS epilepticus treatment , *BRAIN , *ELECTROENCEPHALOGRAPHY , *SLEEP , *STATUS epilepticus - Abstract
Background: Electrographic status epilepticus in slow sleep or continuous spike and waves during slow-wave sleep is an epileptic encephalopathy characterized by seizures, neurocognitive regression, and significant activation of epileptiform discharges during nonrapid eye movement sleep. There is no consensus on the diagnostic criteria and evidence-based optimal treatment algorithm for children with electrographic status epilepticus in slow sleep.Patient Description: We describe a 12-year-old girl with drug-resistant electrographic status epilepticus in slow wave sleep that was successfully treated with vagus nerve stimulation. Her clinical presentation, presurgical evaluation, decision-making, and course after vagus nerve stimulator implantation are described in detail.Findings: After vagus nerve stimulator implantation, the girl remained seizure free for more than a year, resolved the electrographic status epilepticus in slow sleep pattern on electroencephalography, and exhibited significant cognitive improvement.Conclusion: Vagus nerve stimulation may be considered for electrographic status epilepticus in slow sleep. [ABSTRACT FROM AUTHOR]- Published
- 2016
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99. Corpus callosotomy for childhood-onset drug-resistant epilepsy unresponsive to vagus nerve stimulation.
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Arya, Ravindra, Greiner, Hansel M, Horn, Paul S, Turner, Michele, Holland, Katherine D, and Mangano, Francesco T
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- 2014
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100. Excessive Activation of mTOR in Postnatally Generated Granule Cells Is Sufficient to Cause Epilepsy
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Pun, Raymund Y.K., Rolle, Isaiah J., LaSarge, Candi L., Hosford, Bethany E., Rosen, Jules M., Uhl, Juli D., Schmeltzer, Sarah N., Faulkner, Christian, Bronson, Stefanie L., Murphy, Brian L., Richards, David A., Holland, Katherine D., and Danzer, Steve C.
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MTOR protein , *EPILEPSY , *DENTATE gyrus , *HIPPOCAMPUS (Brain) , *NEURAL circuitry , *TRANSGENIC mice - Abstract
Summary: The dentate gyrus is hypothesized to function as a “gate,” limiting the flow of excitation through the hippocampus. During epileptogenesis, adult-generated granule cells (DGCs) form aberrant neuronal connections with neighboring DGCs, disrupting the dentate gate. Hyperactivation of the mTOR signaling pathway is implicated in driving this aberrant circuit formation. While the presence of abnormal DGCs in epilepsy has been known for decades, direct evidence linking abnormal DGCs to seizures has been lacking. Here, we isolate the effects of abnormal DGCs using a transgenic mouse model to selectively delete PTEN from postnatally generated DGCs. PTEN deletion led to hyperactivation of the mTOR pathway, producing abnormal DGCs morphologically similar to those in epilepsy. Strikingly, animals in which PTEN was deleted from ≥9% of the DGC population developed spontaneous seizures in about 4 weeks, confirming that abnormal DGCs, which are present in both animals and humans with epilepsy, are capable of causing the disease. [ABSTRACT FROM AUTHOR]
- Published
- 2012
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