16 results on '"Dabscheck, Gabriel"'
Search Results
2. Risk of seizures in children with tectal gliomas.
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Dabscheck, Gabriel, Prabhu, Sanjay P., Manley, Peter E., Goumnerova, Liliana, and Ullrich, Nicole J.
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GLIOMAS , *ELECTROENCEPHALOGRAPHY , *MAGNETIC resonance imaging of the brain , *EPILEPSY , *PATIENTS , *DIAGNOSIS ,RISK factors of spasms - Abstract
The objective of this study was to determine the prevalence of seizures in children with tectal gliomas and to determine if there are common clinical, electroencephalography ( EEG), or radiologic findings that predict risk of seizures in these patients. We conducted a retrospective review of all patients with tectal gliomas over a 22-year period at a single institution. Data extraction included sex, age at presentation of tectal glioma and age of presentation with seizures, magnetic resonance imaging ( MRI) findings, seizure frequency and semiology, and EEG findings. We identified 79 patients, 66 of whom had adequate imaging and clinical data for further analysis. Eight patients (12.1%) had a history of seizures. Three patients had a clear symptomatic cause of seizures. Three patients were diagnosed with a tectal glioma as an incidental finding after a first seizure. One patient had a history of febrile convulsions. One patient had a generalized seizure 5 years after presenting with macrocephaly. Although the risk of seizure in children with known tectal glioma was relatively high, we did not identify specific clinical, radiologic, EEG, or MRI features that are predictive of increased risk. Thus, in children with tectal gliomas who have seizures, alternative causes for the seizures must be sought. [ABSTRACT FROM AUTHOR]
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- 2015
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3. Isolated Intracranial Hypertension as a Late Manifestation of Sinus Venous Compression Secondary to a Depressed Skull Fracture.
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Dabscheck, Gabriel, Mackay, Mark, Coleman, Lee, and Lo, Patrick
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INTRACRANIAL hypertension , *DIPLOPIA , *WOUNDS & injuries , *INTRACRANIAL pressure , *SKULL fractures , *CHILDREN'S accidents - Abstract
Cerebral venous sinus compression can mimic idiopathic intracranial hypertension. The authors report the case of a 12- year-old girl who presented with diplopia and papilledema 3 weeks after a head injury Lumbar puncture confirmed raised intracranial pressure, and neuroimaging subsequently identified a skull fracture compressing the right transverse sinus. Papilledema and diplopia resolved following surgical elevation of the bone fragment. Computer tomography or magnetic resonance venography are indicated in children presenting with isolated intracranial hypertension following head injury to exclude cerebral venous sinus compression secondary to skull fracture. [ABSTRACT FROM AUTHOR]
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- 2007
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4. Nummular headache associated with focal hair heterochromia in a child.
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Dabscheck, Gabriel and Andrews, Peter Ian
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HEADACHE , *HEAD diseases , *PAIN , *SKULL , *SKELETON - Abstract
Nummular headache (NH) is a recently described headache syndrome where continuous or intermittent pain is localised to a coin-shaped region of the skull. NH can be a primary headache disorder or secondary to intracranial or extracranial pathology. We report a four-year-old boy who presented with nummular headache co-localised with a patch of discoloured hair and propose a common aetiology. [ABSTRACT FROM PUBLISHER]
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- 2010
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5. Sex- and age-related differences in autistic behaviours in children with neurofibromatosis type 1.
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Chisholm, Anita K., Lami, Francesca, Haebich, Kristina M., Ure, Alex, Brignell, Amanda, Maloof, Tiba, Pride, Natalie A., Walsh, Karin S., Maier, Alice, Rouel, Melissa, Granader, Yael, Barton, Belinda, Darke, Hayley, Fuelscher, Ian, Dabscheck, Gabriel, Anderson, Vicki A., Williams, Katrina, North, Kathryn N., and Payne, Jonathan M.
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AGE distribution , *SEX distribution , *SEVERITY of illness index , *COMMUNICATIVE disorders , *BEHAVIOR disorders , *BEHAVIOR disorders in children , *AUTISM , *CHILD psychopathology , *NEUROFIBROMATOSIS 1 , *SOCIAL skills , *SOCIAL disabilities , *DISEASE complications - Abstract
This study investigated sex and age differences in autistic behaviours in children with neurofibromatosis type 1 (NF1) who scored within the clinical range on the Social Responsiveness Scale - Second Edition (T score ≥ 60). Thirty-four males and 28 females (3–16 years) were assessed with the Autism Diagnostic Observation Schedule - Second Edition and Autism Diagnostic Interview - Revised. Across both measures, males exhibited greater social communication deficits relative to females. Age-related abatement of social communication difficulties was observed for males but not females. Conversely, no sex differences were found for restricted/repetitive behaviours, which were stable over time for both males and females. The findings are discussed within the context of broader neurodevelopmental considerations that are common in NF1. [ABSTRACT FROM AUTHOR]
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- 2023
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6. A cross‐sectional investigation of cognition and epileptiform discharges in juvenile absence epilepsy.
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Dharan, Anita L., Bowden, Stephen C., Peterson, Andre, Lai, Alan, Seneviratne, Udaya, Dabscheck, Gabriel, Nurse, Ewan, Loughman, Amy, Parsons, Nicholas, and D'Souza, Wendyl J.
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EPILEPTIFORM discharges , *EPILEPSY , *COGNITIVE processing speed , *COGNITIVE ability , *COGNITIVE Abilities Test , *COGNITION - Abstract
Objectives: Despite the prevalence of cognitive symptoms in the idiopathic generalized epilepsies (IGEs), cognitive dysfunction in juvenile absence epilepsy (JAE), a common yet understudied IGE subtype, remains poorly understood. This descriptive study provides a novel, comprehensive characterization of cognitive functioning in a JAE sample and examines the relationship between cognition and 24‐h epileptiform discharge load. Method: Forty‐four individuals diagnosed with JAE underwent cognitive assessment using Woodcock Johnson III Test of Cognitive Abilities with concurrent 24‐h ambulatory EEG monitoring. Generalized epileptiform discharges of any length, and prolonged generalized discharges ≥3 s were quantified across wakefulness and sleep. The relationship between standardized cognitive scores and epileptiform discharges was assessed through regression models. Results: Cognitive performances in overall intellectual ability, acquired comprehension‐knowledge, processing speed, long‐term memory storage and retrieval, and executive processes were 0.63–1.07 standard deviation (SD) units lower in the JAE group compared to the population reference mean, adjusted for educational attainment. Prolonged discharges (≥3 s) were recorded in 20 patients (47.6%) from 42 available electroencephalography (EEG) studies and were largely unreported. Duration and number of prolonged discharges were associated with reduced processing speed and long‐term memory storage and retrieval. Significance: Cognitive dysfunction is seen in patients with JAE across various cognitive abilities, including those representing more stable processes like general intellect. During 24‐h EEG, prolonged epileptiform discharges are common yet underreported in JAE despite treatment, and they show moderate effects on cognitive abilities. If epileptiform burden is a modifiable predictor of cognitive dysfunction, therapeutic interventions should consider quantitative 24‐h EEG with routine neuropsychological screening. The growing recognition of the spectrum of neuropsychological comorbidities of IGE highlights the value of multidisciplinary approaches to explore the causes and consequences of cognitive deficits in epilepsy. [ABSTRACT FROM AUTHOR]
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- 2023
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7. Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.
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Scheffer, Ingrid E., Bennett, Caitlin A., Gill, Deepak, de Silva, Michelle G., Boggs, Kirsten, Marum, Justine, Baker, Naomi, Palmer, Elizabeth E., Howell, Katherine B., Andrews, Ian, Antony, Jayne, Ardern‐Holmes, Simone, Bye, Ann M, Cardamone, Michael, Chelakkadan, Shabeed, Clark, Damian, Curnow, Sarah R, Dabscheck, Gabriel, Fahey, Michael C, and Freeman, Jeremy L
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PEOPLE with epilepsy , *GENOMICS , *MOLECULAR diagnosis , *CHILD care , *CLINICAL medicine , *EPILEPSY , *PSYCHOGENIC nonepileptic seizures - Abstract
Aim: To assess the clinical utility of exome sequencing for patients with developmental and epileptic encephalopathies (DEEs). Method: Over 2 years, patients with DEEs were recruited for singleton exome sequencing. Parental segregation was performed where indicated. Results: Of the 103 patients recruited (54 males, 49 females; aged 2 weeks–17 years), the genetic aetiology was identified in 36 out of 103 (35%) with management implications in 13 out of 36. Exome sequencing revealed pathogenic or likely pathogenic variants in 30 out of 103 (29%) patients, variants of unknown significance in 39 out of 103 (38%), and 34 out of 103 (33%) were negative on exome analysis. After the description of new genetic diseases, a molecular diagnosis was subsequently made for six patients or through newly available high‐density chromosomal microarray testing. Interpretation: We demonstrate the utility of exome sequencing in routine clinical care of children with DEEs. We highlight that molecular diagnosis often leads to changes in management and informs accurate prognostic and reproductive counselling. Our findings reinforce the need for ongoing analysis of genomic data to identify the aetiology in patients in whom the cause is unknown. The implementation of genomic testing in the care of children with DEEs should become routine in clinical practice. What this paper adds: The cause was identified in 35% of patients with developmental and epileptic encephalopathies.KCNQ2, CDKL5, SCN1A, and STXBP1 were the most frequently identified genes.Reanalysis of genomic data found the cause in an additional six patients.Genetic aetiology was identified in 41% of children with seizure onset under 2 years, compared to 18% with older onset.Finding the molecular cause led to management changes in 36% of patients with DEEs. What this paper adds: The cause was identified in 35% of patients with developmental and epileptic encephalopathies.KCNQ2, CDKL5, SCN1A, and STXBP1 were the most frequently identified genes.Reanalysis of genomic data found the cause in an additional six patients.Genetic aetiology was identified in 41% of children with seizure onset under 2 years, compared to 18% with older onset.Finding the molecular cause led to management changes in 36% of patients with DEEs. [ABSTRACT FROM AUTHOR]
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- 2023
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8. A randomized controlled trial of remote microphone listening devices to treat auditory deficits in children with neurofibromatosis type 1.
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Rance, Gary, Maier, Alice, Zanin, Julien, Haebich, Kristina M., North, Kathryn N., Orsini, Francesca, Dabscheck, Gabriel, Delatycki, Martin B., and Payne, Jonathan M.
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Background: A high proportion of patients with neurofibromatosis type 1 (NF1) present with functional hearing deficiency as a result of neural abnormality in the late auditory brainstem. Methods: In this randomized, two-period crossover study, we investigated the hypothesis that remote-microphone listening devices can ameliorate hearing and communication deficits in affected school-aged children (7–17 years). Speech perception ability in background noise was evaluated in device-active and inactive conditions using the CNC-word test. Participants were then randomized to one of two treatment sequences: (1) inactive device for two weeks (placebo), followed by active device use for two weeks, or (2) active device for 2 weeks, followed by inactive device for 2 weeks. Listening and communication ratings (LIFE-R Questionnaire) were obtained at baseline and at the end of each treatment phase. Results: Each participant demonstrated functional hearing benefits with remote-microphone use. All showed a speech perception in noise increase when the device was activated with a mean phoneme-score difference of 16.4% (p < 0.001) and reported improved listening/communication abilities in the school classroom (mean difference: 23.4%; p = 0.017). Discussion: Conventional hearing aids are typically ineffective as a treatment for auditory neural dysfunction, making sounds louder, but not clearer for affected individuals. In this study, we demonstrate that remote-microphone technologies are acceptable/tolerable in pediatric patients with NF1 and can ameliorate their hearing deficits. Conclusion: Remote-microphone listening systems offer a viable treatment option for children with auditory deficits associated with NF1. [ABSTRACT FROM AUTHOR]
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- 2022
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9. Delineating the autistic phenotype in children with neurofibromatosis type 1.
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Chisholm, Anita K., Haebich, Kristina M., Pride, Natalie A., Walsh, Karin S., Lami, Francesca, Ure, Alex, Maloof, Tiba, Brignell, Amanda, Rouel, Melissa, Granader, Yael, Maier, Alice, Barton, Belinda, Darke, Hayley, Dabscheck, Gabriel, Anderson, Vicki A., Williams, Katrina, North, Kathryn N., and Payne, Jonathan M.
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COMMUNICATIVE disorders , *AUTISTIC children , *NEUROFIBROMATOSIS 1 , *AUTISM in children , *ATTENTION-deficit hyperactivity disorder , *AUTISM - Abstract
Background: Existing research has demonstrated elevated autistic behaviours in children with neurofibromatosis type 1 (NF1), but the autistic phenotype and its relationship to other neurodevelopmental manifestations of NF1 remains unclear. To address this gap, we performed detailed characterisation of autistic behaviours in children with NF1 and investigated their association with other common NF1 child characteristics. Methods: Participants were drawn from a larger cross-sectional study examining autism in children with NF1. The population analysed in this study scored above threshold on the Social Responsiveness Scale-Second Edition (T-score ≥ 60; 51% larger cohort) and completed the Autism Diagnostic Interview-Revised (ADI-R) and/or the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2). All participants underwent evaluation of their intellectual function, and behavioural data were collected via parent questionnaires. Results: The study cohort comprised 68 children (3–15 years). Sixty-three per cent met the ADOS-2 'autism spectrum' cut-off, and 34% exceeded the more stringent threshold for 'autistic disorder' on the ADI-R. Social communication symptoms were common and wide-ranging, while restricted and repetitive behaviours (RRBs) were most commonly characterised by 'insistence on sameness' (IS) behaviours such as circumscribed interests and difficulties with minor changes. Autistic behaviours were weakly correlated with hyperactive/impulsive attention deficit hyperactivity disorder (ADHD) symptoms but not with inattentive ADHD or other behavioural characteristics. Language and verbal IQ were weakly related to social communication behaviours but not to RRBs. Limitations: Lack of genetic validation of NF1, no clinical diagnosis of autism, and a retrospective assessment of autistic behaviours in early childhood. Conclusions: Findings provide strong support for elevated autistic behaviours in children with NF1. While these behaviours were relatively independent of other NF1 comorbidities, the importance of taking broader child characteristics into consideration when interpreting data from autism-specific measures in this population is highlighted. Social communication deficits appear similar to those observed in idiopathic autism and are coupled with a unique RRB profile comprising prominent IS behaviours. This autistic phenotype and its relationship to common NF1 comorbidities such as anxiety and executive dysfunction will be important to examine in future research. Current findings have important implications for the early identification of autism in NF1 and clinical management. [ABSTRACT FROM AUTHOR]
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- 2022
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10. The severe epilepsy syndromes of infancy: A population‐based study.
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Howell, Katherine B., Freeman, Jeremy L., Mackay, Mark T., Fahey, Michael C., Archer, John, Berkovic, Samuel F., Chan, Eunice, Dabscheck, Gabriel, Eggers, Stefanie, Hayman, Michael, Holberton, James, Hunt, Rodney W., Jacobs, Susan E., Kornberg, Andrew J., Leventer, Richard J., Mandelstam, Simone, McMahon, Jacinta M., Mefford, Heather C., Panetta, Julie, and Riseley, Jessica
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SEIZURES (Medicine) , *INFANTS , *SYNDROMES , *INFANTILE spasms , *BRAIN imaging , *EPILEPSY , *NEUROCYSTICERCOSIS - Abstract
Objective: To study the epilepsy syndromes among the severe epilepsies of infancy and assess their incidence, etiologies, and outcomes. Methods: A population‐based cohort study was undertaken of severe epilepsies with onset before age 18 months in Victoria, Australia. Two epileptologists reviewed clinical features, seizure videos, and electroencephalograms to diagnose International League Against Epilepsy epilepsy syndromes. Incidence, etiologies, and outcomes at age 2 years were determined. Results: Seventy‐three of 114 (64%) infants fulfilled diagnostic criteria for epilepsy syndromes at presentation, and 16 (14%) had "variants" of epilepsy syndromes in which there was one missing or different feature, or where all classical features had not yet emerged. West syndrome (WS) and "WS‐like" epilepsy (infantile spasms without hypsarrhythmia or modified hypsarrhythmia) were the most common syndromes, with a combined incidence of 32.7/100 000 live births/year. The incidence of epilepsy of infancy with migrating focal seizures (EIMFS) was 4.5/100 000 and of early infantile epileptic encephalopathy (EIEE) was 3.6/100 000. Structural etiologies were common in "WS‐like" epilepsy (100%), unifocal epilepsy (83%), and WS (39%), whereas single gene disorders predominated in EIMFS, EIEE, and Dravet syndrome. Eighteen (16%) infants died before age 2 years. Development was delayed or borderline in 85 of 96 (89%) survivors, being severe–profound in 40 of 96 (42%). All infants with EIEE or EIMFS had severe–profound delay or were deceased, but only 19 of 64 (30%) infants with WS, "WS‐like," or "unifocal epilepsy" had severe–profound delay, and only two of 64 (3%) were deceased. Significance: Three quarters of severe epilepsies of infancy could be assigned an epilepsy syndrome or "variant syndrome" at presentation. In this era of genomic testing and advanced brain imaging, diagnosing epilepsy syndromes at presentation remains clinically useful for guiding etiologic investigation, initial treatment, and prognostication. [ABSTRACT FROM AUTHOR]
- Published
- 2021
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11. Spinal Cord Hyperintensities in Neurofibromatosis Type 1: Are They the Cord Equivalent of Unidentified Bright Objects in the Brain?
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Rüegger, Andrea D., Coleman, Lee, Hansford, Jordan R., McLean, Natalie, and Dabscheck, Gabriel
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SPINAL cord abnormalities , *NEUROFIBROMATOSIS 1 , *BRAIN imaging , *MAGNETIC resonance imaging , *PEDIATRIC neurology - Abstract
Background: Focal areas of T2 hyperintensity are seen on magnetic resonance imaging (MRI) in patients with neurofibromatosis type 1 (NF1). These lesions are commonly known as "unidentified bright objects" of the brain. We have seen similar lesions in the spinal cord of the same patient population. Our aim was to determine the prevalence and characterize the imaging features of these T2 hyperintense spinal cord lesions in children with NF1.Methods: A search of our hospital's medical imaging database yielded all children with NF1 and MRI of the brain and/or spine between February 2014 and April 2017. Medical imaging was reviewed for T2 hyperintense signal changes and medical records were reviewed of those children with T2 hyperintense spinal cord lesions.Results: During the study period 155 children underwent a brain MRI and 72 had a spine MRI. One hundred twenty-three (79%) showed multiple cerebral T2 hyperintense lesions and six (8%) had non-contrast enhancing spinal cord T2 hyperintensities with five children having had a follow-up scan. The one child without follow-up imaging was not further pursued. Interval scanning showed stable appearance of the spinal cord lesions in four children and signal reduction in one child. All five children with T2 hyperintense changes in the spinal cord had an MRI brain and all (100%) also exhibited cerebral T2 hyperintensities.Conclusions: Focal areas of signal hyperintensity in the spinal cord are the corollary of the better described cerebral T2 hyperintensities in individuals with NF1. [ABSTRACT FROM AUTHOR]- Published
- 2018
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12. THE MAIL.
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von Dornum, Deirdre D., Wolfe, John, Dabscheck, Gabriel, and Smith, Lamar
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CAPITAL punishment policy , *ACTIONS & defenses (Law) , *CONTRACTORS , *JOB security - Published
- 2017
13. Aberrant splicing and transcriptional activity of TPP1 result in CLN2-like disorder.
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Helman, Guy, Taylor, Lauren E., Walkiewicz, Marzena, Le Moing, Maelle, Eggers, Stefanie, Yaplito-Lee, Joy, Fuller, Maria, Dabscheck, Gabriel, Rodriguez-Casero, Victoria, White, Susan M., and Simons, Cas
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DNA sequencing , *GENETIC variation , *NEURONAL ceroid-lipofuscinosis , *RNA sequencing , *COMPLEMENTARY DNA , *EXOMES , *NUCLEOTIDE sequence - Abstract
RNA sequencing (RNAseq) is emerging as a complementary tool to DNA sequencing, providing utility in diagnosis for disorders such as neuronal ceroid lipofuscinosis CLN2 disease. We describe an individual with a presentation suggestive of an attenuated CLN2 phenotype, including a history of regression, recent-onset microcephaly and spasticity from age five years. Exome sequencing revealed two variants inherited in trans in TPP1, NM_000391.4:c.225A>G; p.(Gln75 =) and NM_000391.4:c.1012C>G; p.(Gln338Glu), both classified as variants of uncertain significance. TPP1 activity was found to be significantly reduced in fibroblasts of the affected individual. RNAseq was performed to assess the impact of compound heterozygous variants in TPP1 and enabled the identification of three aberrant splicing events. The c.225A>G variant introduces a 5 nucleotide truncation of exon 3 and a loss of reading frame. The majority of CLN2 transcripts exclude either exon 8 or exons 7-8, resulting in large in-frame deletions. Isoform specific RT-PCR confirmed the aberrant splicing events are mutually exclusive, suggesting that the paternal exon 8 c.1012C>G variant results in exon skipping. This case study demonstrates how RNAseq can be used as an orthogonal test to inform the interpretation of some variants of unknown significance and its particular importance in disorders where effective disease management requires early diagnosis. [ABSTRACT FROM AUTHOR]
- Published
- 2021
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14. Contribution of rare genetic variants to drug response in absence epilepsy.
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Myers, Kenneth A., Bennett, Mark F., Grinton, Bronwyn E., Dabscheck, Gabriel, Chan, Eunice K., Bello-Espinosa, Luis E., Sadleir, Lynette G., D'Alfonso, Sabrina, Schneider, Amy L., Damiano, John A., Hildebrand, Michael S., Bahlo, Melanie, Berkovic, Samuel F., Buchhalter, Jeffrey, and Scheffer, Ingrid E.
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GENES , *CALCIUM channels , *VALPROIC acid , *PEOPLE with epilepsy , *GABA receptors , *EPILEPSY - Abstract
• No significant enrichment of CACNA1H rare variants in ethosuximide-non-responsive patients, though odds ratio was high (3.43). • No significant enrichment of rare variants in GABA-receptor genes was found in valproic acid-non-responsive patients. • Enrichment of GABA-receptor gene rare variants in the difficult-to-treat absence epilepsy cohort, compared to controls. • The presence of CACNA1H rs61734410 and CACNA1I rs3747178 polymorphisms was not predictive of response to ethosuximide. We investigated the possible significance of rare genetic variants to response to valproic acid (VPA) and ethosuximide (ETX) in patients with absence epilepsy. Our primary hypothesis was that rare CACNA1H variants are more frequent in ETX-non-responsive patients compared to ETX-responsive. Our secondary hypothesis was that rare variants in GABA-receptor genes are more frequent in VPA-non-responsive patients compared to VPA-responsive. We recruited patients with absence epilepsy treated with both VPA and ETX, and performed whole exome sequencing in order to investigate the potential role of rare variants in CACNA1H , other voltage-gated calcium channel (VGCC) genes, or GABA-receptor genes in predicting response to ETX or VPA. Sixty-two patients were included; 12 were ETX-responsive, 14 VPA-responsive, and 36 did not have a clear positive response to either medication. We did not find significant enrichment in CACNA1H rare variants in ETX-responsive patients (odds ratio 3.43; 0.43–27.65; p = 0.20), nor was there enrichment for other VGCC genes. No significant enrichment of GABA-receptor gene rare variants was seen for VPA-non-responsive patients versus VPA-responsive. We found enrichment of rare GABA-receptor variants in our absence cohort compared to controls (odds ratio 3.82; 1.68−8.69). There was no difference in frequency of CACNA1H rs61734410 and CACNA1I rs3747178 polymorphisms between ETX-responsive and ETX-non-responsive groups; these polymorphisms have previously been reported to predict lack of response to ETX in absence epilepsy. We conclude that if CACNA1H rare variants predict lack of response to ETX, a larger sample is necessary to test this with sufficient power. Increased GABA-receptor gene rare variant frequency in absence epilepsy patients who fail initial anti-seizure therapy suggests subtle GABA receptor dysfunction may contribute to the underlying pathophysiology. [ABSTRACT FROM AUTHOR]
- Published
- 2021
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15. Clinical application of the PedsQL Epilepsy Module (PedsQL-EM) in an ambulatory pediatric epilepsy setting.
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Hulse, Danielle, Harvey, A. Simon, Freeman, Jeremy L., Mackay, Mark T., Dabscheck, Gabriel, and Barton, Sarah M.
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Children with epilepsy report lower health-related quality of life (QOL) compared with healthy children and those with other chronic disorders. This study piloted the recently published Pediatric Quality of Life Inventory (PedsQL) Epilepsy Module (PedsQL-EM) in an ambulatory setting and studied epilepsy-related factors contributing to QOL in children with epilepsy. Children with epilepsy aged 8–18 years who were ambulant and verbal were recruited from pediatric neurology clinics. Children and their caregivers completed age-appropriate versions of the PedsQL-EM (8–12 or 13–18 years) in the clinic waiting area. Treating neurologists completed medical questionnaires about their patients' epilepsy. We collected 151 parent-report and 127 self-report PedsQL-EMs. Administration time was 5–10 min with some children receiving assistance from the researcher. Mean age of children was 12.9+/-3.0, with 77 females (51%). Parents reported lower mean QOL scores across all subdomains compared with their children. Parents reported significantly lower QOL for children with earlier age at epilepsy onset, longer epilepsy duration, presence of seizures during the last month, more severe epilepsy, increased number of antiepileptic drugs (AEDs), and cognitive comorbidity. The same factors impacted on child self-reporting, but with more variability across subdomains. The PedsQL-EM is an epilepsy-specific measure of QOL that is quick and easy to administer and is sensitive to the clinical factors reported to impact on QOL in pediatric epilepsy. • We piloted the PedsQL Epilepsy Module (PedsQL-EM) in an ambulatory setting. • Parents reported lower scores on the PedsQL-EM compared with their children. • Lower scores on the PedsQL-EM were associated with more severe epilepsy. • The findings of this study support the clinical utility of the PedsQL-EM. [ABSTRACT FROM AUTHOR]
- Published
- 2020
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16. Acute bilateral myopia caused by lamotrigine-induced uveal effusions.
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Woodcock, Ian R, Taylor, Lauren E, Ruddle, Jonathan B, Freeman, Jeremy L, and Dabscheck, Gabriel
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LAMOTRIGINE , *VALPROIC acid , *MYOPIA , *DIAGNOSIS - Abstract
The article presents a case study of a 14 year-old girl taken to the emergency department because of blurred vision and diagnosis of Lamotrigine. Particular focus is given to the eye examinations conducted including visual acuity, lymphadenopathy, and myopia of the right eye. Also discussed is the cessation of lamotrigine and use of valproate for treatment.
- Published
- 2017
- Full Text
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