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2. The relationship between d‐beta‐hydroxybutyrate blood concentrations and seizure control in children treated with the ketogenic diet for medically intractable epilepsy

Author

Buchhalter, Jeffrey R, D'Alfonso, Sabrina, Connolly, Mary, Fung, Ernest, Michoulas, Aspasia, Sinasac, David, Singer, Rachel, Smith, Jacklyn, Singh, Narender, and Rho, Jong M

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Brain Disorders, Neurodegenerative, Pediatric, Nutrition, Epilepsy, Neurosciences, Clinical Research, Beta‐hydroxybutyrate, Child, Ketogenic diet, Ketone, Clinical sciences, Biological psychology
Abstract

ObjectiveThe ketogenic diet (KD) is a proven treatment for drug-resistant (DR) seizures in children and adolescents. However, the relationship between seizure control and the most commonly measured metabolite of the diet, the ketone body d-beta-hydroxybutyrate (D-BHB), is controversial. This study was performed to clarify the relationship because specific ketone bodies may be useful as biomarkers of diet efficacy.MethodsFamilies of children with DR seizures were approached for participation in this open-label, prospective study when they were referred for the KD at two western Canadian children's hospitals. Inclusion criteria included documentation of DR seizures without exclusion based on age, sex, seizure, or syndrome type. Patients were excluded if they were referred for treatment of a metabolic disorder independent of seizures. Seizures were quantified via parental report and standardized as seizure frequency per 28 days. Epilepsy syndromes were identified on the basis of the medical record. Blood D-BHB was determined by tandem mass spectrometry.ResultsA total of 23 patients were recruited from both sites. Data from five individuals were excluded because these seizures occurred in clusters, leaving 18 patients for the primary analysis. In the latter group, a clear positive correlation was present between measures of seizure frequency and D-BHB concentrations. However, this failed to reach statistical significance, likely because of the relatively small numbers.SignificanceA trend clearly exists between seizure frequency and D-BHB levels, so we should not be dissuaded by the lack of statistical significance because it possibly results from methodological techniques, especially sample size. These results call for a larger prospective study in which seizure frequency is assessed at the point of care in a standardized fashion so as to determine whether D-BHB can be used as a reliable biomarker of KD efficacy.

Published
2017

3. Expanding the genotype-phenotype spectrum in SCN8A-related disorders

Author

Hebbar, Malavika, primary, Al-Taweel, Nawaf, additional, Gill, Inderpal, additional, Boelman, Cyrus, additional, Dean, Richard A, additional, Goodchild, Samuel J, additional, Mezeyova, Janette, additional, Shuart, Noah Gregory, additional, Johnson, J. P., additional, Lee, James, additional, Michoulas, Aspasia, additional, Huh, Linda L, additional, Armstrong, Linlea, additional, Connolly, Mary B, additional, and Demos, Michelle K., additional

Published
2023
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7. Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

Author

Demos, Michelle, Guella, Ilaria, DeGuzman, Conrado, McKenzie, Marna B, Buerki, Sarah E, Evans, Daniel M, Toyota, Eric B, Boelman, Cyrus, Huh, Linda L, Datta, Anita, Michoulas, Aspasia, Selby, Kathryn, Bjornson, Bruce H, Horvath, Gabriella, Lopez-Rangel, Elena, van Karnebeek, Clara D M, Salvarinova, Ramona, Slade, Erin, Eydoux, Patrice, Adam, Shelin, Van Allen, Margot I, Nelson, Tanya N, Bolbocean, Corneliu, Connolly, Mary B, Farrer, Matthew J, Demos, Michelle, Guella, Ilaria, DeGuzman, Conrado, McKenzie, Marna B, Buerki, Sarah E, Evans, Daniel M, Toyota, Eric B, Boelman, Cyrus, Huh, Linda L, Datta, Anita, Michoulas, Aspasia, Selby, Kathryn, Bjornson, Bruce H, Horvath, Gabriella, Lopez-Rangel, Elena, van Karnebeek, Clara D M, Salvarinova, Ramona, Slade, Erin, Eydoux, Patrice, Adam, Shelin, Van Allen, Margot I, Nelson, Tanya N, Bolbocean, Corneliu, Connolly, Mary B, and Farrer, Matthew J

Abstract

Targeted whole-exome sequencing (WES) is a powerful diagnostic tool for a broad spectrum of heterogeneous neurological disorders. Here, we aim to examine the impact on diagnosis, treatment and cost with early use of targeted WES in early-onset epilepsy. WES was performed on 180 patients with early-onset epilepsy (≤5 years) of unknown cause. Patients were classified as Retrospective (epilepsy diagnosis >6 months) or Prospective (epilepsy diagnosis <6 months). WES was performed on an Ion Proton™ and variant reporting was restricted to the sequences of 620 known epilepsy genes. Diagnostic yield and time to diagnosis were calculated. An analysis of cost and impact on treatment was also performed. A molecular diagnoses (pathogenic/likely pathogenic variants) was achieved in 59/180 patients (33%). Clinical management changed following WES findings in 23 of 59 diagnosed patients (39%) or 13% of all patients. A possible diagnosis was identified in 21 additional patients (12%) for whom supporting evidence is pending. Time from epilepsy onset to a genetic diagnosis was faster when WES was performed early in the diagnostic process (mean: 145 days Prospective vs. 2,882 days Retrospective). Costs of prior negative tests averaged $8,344 per patient in the Retrospective group, suggesting savings of $5,110 per patient using WES. These results highlight the diagnostic yield, clinical utility and potential cost-effectiveness of using targeted WES early in the diagnostic workup of patients with unexplained early-onset epilepsy. The costs and clinical benefits are likely to continue to improve. Advances in precision medicine and further studies regarding impact on long-term clinical outcome will be important.

Published
2019

8. Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

Author

Demos, Michelle, primary, Guella, Ilaria, additional, DeGuzman, Conrado, additional, McKenzie, Marna B., additional, Buerki, Sarah E., additional, Evans, Daniel M., additional, Toyota, Eric B., additional, Boelman, Cyrus, additional, Huh, Linda L., additional, Datta, Anita, additional, Michoulas, Aspasia, additional, Selby, Kathryn, additional, Bjornson, Bruce H., additional, Horvath, Gabriella, additional, Lopez-Rangel, Elena, additional, van Karnebeek, Clara D. M., additional, Salvarinova, Ramona, additional, Slade, Erin, additional, Eydoux, Patrice, additional, Adam, Shelin, additional, Van Allen, Margot I., additional, Nelson, Tanya N., additional, Bolbocean, Corneliu, additional, Connolly, Mary B., additional, and Farrer, Matthew J., additional

Published
2019
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9. Exome sequencing and the management of neurometabolic disorders

Author

Tarailo-Graovac, Maja, Shyr, Casper, Ross, Colin J, Horvath, Gabriella A, Salvarinova, Ramona, Ye, Xin C, Zhang, Lin-Hua, Bhavsar, Amit P, Lee, Jessica J Y, Drögemöller, Britt I, Abdelsayed, Mena, Alfadhel, Majid, Armstrong, Linlea, Baumgartner, Matthias R, Burda, Patricie, Connolly, Mary B, Cameron, Jessie, Demos, Michelle, Dewan, Tammie, Dionne, Janis, Evans, A Mark, Friedman, Jan M, Garber, Ian, Lewis, Suzanne, Ling, Jiqiang, Mandal, Rupasri, Mattman, Andre, McKinnon, Margaret, Michoulas, Aspasia, Metzger, Daniel, et al, and University of Zurich

Subjects
10036 Medical Clinic, 610 Medicine & health, 2700 General Medicine
Published
2016
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10. An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2

Author

Wilbur, Colin, primary, Buerki, Sarah E., additional, Guella, Ilaria, additional, Toyota, Eric B., additional, Evans, Daniel M., additional, McKenzie, Marna B., additional, Datta, Anita, additional, Michoulas, Aspasia, additional, Adam, Shelin, additional, Van Allen, Margot I., additional, Nelson, Tanya N., additional, Farrer, Matthew J., additional, Connolly, Mary B., additional, and Demos, Michelle, additional

Published
2017
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11. Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-onset Epilepsy

Author

Demos, Michelle, primary, Guella, Ilaria, additional, McKenzie, Marna B., additional, Buerki, Sarah E., additional, Evans, Daniel M., additional, Toyota, Eric B., additional, Boelman, Cyrus, additional, Huh, Linda L., additional, Datta, Anita, additional, Michoulas, Aspasia, additional, Selby, Kathryn, additional, Bjornson, Bruce H., additional, Horvath, Gabriella, additional, Lopez-Rangel, Elena, additional, van Karnebeek, Clara DM, additional, Salvarinova, Ramona, additional, Slade, Erin, additional, Eydoux, Patrice, additional, Adam, Shelin, additional, Van Allen, Margot. I., additional, Nelson, Tanya N., additional, Bolbocean, Corneliu, additional, Connolly, Mary B., additional, and Farrer, Matthew J., additional

Published
2017
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12. Case Report

Author

Datta, Anita, primary, Ferguson, Alex, additional, Simonson, Chris, additional, Zannotto, Francesca, additional, Michoulas, Aspasia, additional, Roland, Elke, additional, Karnebeek, Clara van, additional, and Salvarinova, Ramona, additional

Published
2017
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13. Two Patients With KCNT1-Related Epilepsy Responding to Phenobarbital and Potassium Bromide.

Author

Datta, Anita N., Michoulas, Aspasia, Guella, Ilaria, and Demos, Michelle

Subjects
*POTASSIUM bromide, *POTASSIUM antagonists, *PEOPLE with epilepsy, *POTASSIUM channels, *FRONTAL lobe
Abstract

KCNT1 encodes a sodium-activated potassium channel highly expressed in the brain, regulating hyperpolarization following repetitive firing. Mutations in KCNT1 were originally implicated in autosomal-dominant nocturnal frontal lobe epilepsy and epilepsy of infancy with migrating focal seizures. It is now known that there is variability in phenotypic expression and incomplete penetrance. We describe 2 patients with KCNT1 -related epilepsy, one with epilepsy of infancy with migrating focal seizures and one with multifocal epilepsy. As most patients with KCNT1 variants have treatment-resistant epilepsy, drugs that specifically target the KCNT1 channel have been of great interest. Quinidine, a broad-spectrum potassium channel blocker, has shown promise; however, clinical trial results have been variable. Our patient with epilepsy of infancy with migrating focal seizures did not respond to a trial of quinidine at 6 weeks of age—one of the earliest reported quinidine trials in the literature for KCNT1 -related epilepsy. This indicates that timing of treatment and response may not be related. Both patients responded to high-dose phenobarbital. The patient with epilepsy of infancy with migrating focal seizures also had a significant reduction in seizures with potassium bromide (KBr). Our data suggest that alternative therapies to quinidine should be considered as a therapeutic option for patients with KCNT1 -related epilepsy. Although improved seizure control led to parent-reported improvements in neurodevelopment, it is unknown if phenobarbital and KBr impact the overall developmental trajectory of patients with KCNT1 -related epilepsy. Further multicenter longitudinal studies are required. [ABSTRACT FROM AUTHOR]

Published
2019
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14. Exome Sequencing and the Management of Neurometabolic Disorders

Author

Tarailo-Graovac, Maja, primary, Shyr, Casper, additional, Ross, Colin J., additional, Horvath, Gabriella A., additional, Salvarinova, Ramona, additional, Ye, Xin C., additional, Zhang, Lin-Hua, additional, Bhavsar, Amit P., additional, Lee, Jessica J.Y., additional, Drögemöller, Britt I., additional, Abdelsayed, Mena, additional, Alfadhel, Majid, additional, Armstrong, Linlea, additional, Baumgartner, Matthias R., additional, Burda, Patricie, additional, Connolly, Mary B., additional, Cameron, Jessie, additional, Demos, Michelle, additional, Dewan, Tammie, additional, Dionne, Janis, additional, Evans, A. Mark, additional, Friedman, Jan M., additional, Garber, Ian, additional, Lewis, Suzanne, additional, Ling, Jiqiang, additional, Mandal, Rupasri, additional, Mattman, Andre, additional, McKinnon, Margaret, additional, Michoulas, Aspasia, additional, Metzger, Daniel, additional, Ogunbayo, Oluseye A., additional, Rakic, Bojana, additional, Rozmus, Jacob, additional, Ruben, Peter, additional, Sayson, Bryan, additional, Santra, Saikat, additional, Schultz, Kirk R., additional, Selby, Kathryn, additional, Shekel, Paul, additional, Sirrs, Sandra, additional, Skrypnyk, Cristina, additional, Superti-Furga, Andrea, additional, Turvey, Stuart E., additional, Van Allen, Margot I., additional, Wishart, David, additional, Wu, Jiang, additional, Wu, John, additional, Zafeiriou, Dimitrios, additional, Kluijtmans, Leo, additional, Wevers, Ron A., additional, Eydoux, Patrice, additional, Lehman, Anna M., additional, Vallance, Hilary, additional, Stockler-Ipsiroglu, Sylvia, additional, Sinclair, Graham, additional, Wasserman, Wyeth W., additional, and van Karnebeek, Clara D., additional

Published
2016
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15. Diagnostic Yield and Treatment Impact of Targeted Whole Exome Sequencing in Early Onset Epilepsy (P5.155)

Author

Buerki, Sarah, primary, Toyota, Eric, additional, Guella, Ilaria, additional, McKenzie, Marna, additional, Evans, Dan, additional, Adam, Shelin, additional, Van Allen, Margot, additional, Boelman, Cyrus, additional, Horvath, Gabriella, additional, Van Karnebeek, Clara, additional, Eydoux, Patrice, additional, Huh, Linda, additional, Datta, Anita, additional, Selby, Kathy, additional, Michoulas, Aspasia, additional, Nelson, Tanya, additional, Connolly, Mary, additional, Farrer, Matthew, additional, and Demos, Michelle, additional

Published
2016
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16. Diagnostic Yield and Treatment Impact of Targeted Whole Exome Sequencing in Early Onset Epilepsy (I14.001)

Author

Buerki, Sarah, primary, Toyota, Eric, additional, Guella, Ilaria, additional, McKenzie, Marna, additional, Evans, Dan, additional, Adam, Shelin, additional, Van Allen, Margot, additional, Boelman, Cyrus, additional, Horvath, Gabriella, additional, Van Karnebeek, Clara, additional, Eydoux, Patrice, additional, Huh, Linda, additional, Datta, Anita, additional, Selby, Kathy, additional, Michoulas, Aspasia, additional, Nelson, Tanya, additional, Connolly, Mary, additional, Farrer, Matthew, additional, and Demos, Michelle, additional

Published
2016
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19. Approach to a child with a first afebrile seizure.

Author

Michoulas, Aspasia, Farrell, Kevin, and Connolly, Mary

Subjects
*FEBRILE seizures, *SEIZURES in children, *ELECTROENCEPHALOGRAPHY, *BRAIN imaging, *ANTICONVULSANTS
Abstract

Afebrile seizures have many causes. Physicians attempting to determine the cause of an afebrile seizure should obtain more information with the help of a detailed clinical history, electroencephalography, and neuroimaging. Antiepileptic medications are rarely indicated after a first afebrile seizure. In all cases of afebrile seizure, physicians should provide support to the family. [ABSTRACT FROM AUTHOR]

Published
2011

20. Expanding the genotype-phenotype spectrum in SCN8A-related disorders.

Author

Hebbar M, Al-Taweel N, Gill I, Boelman C, Dean RA, Goodchild SJ, Mezeyova J, Shuart NG, Johnson JP, Lee J, Michoulas A, Huh LL, Armstrong L, Connolly MB, and Demos MK

Abstract

Background: SCN8A -related disorders are a group of variable conditions caused by pathogenic variations in SCN8A . Online Mendelian Inheritance in Man (OMIM) terms them as developmental and epileptic encephalopathy 13, benign familial infantile seizures 5 or cognitive impairment with or without cerebellar ataxia., Methods: In this study, we describe clinical and genetic results on eight individuals from six families with SCN8A pathogenic variants identified via exome sequencing., Results: Clinical findings ranged from normal development with well-controlled epilepsy to significant developmental delay with treatment-resistant epilepsy. Three novel and three reported variants were observed in SCN8A . Electrophysiological analysis in transfected cells revealed a loss-of-function variant in Patient 4., Conclusions: This work expands the clinical and genotypic spectrum of SCN8A -related disorders and provides electrophysiological results on a novel loss-of-function SCN8A variant., Competing Interests: Competing interest The authors declare that they have no competing interests.

Published
2023
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