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1. Do germline genetic variants influence surgical outcomes in drug-resistant epilepsy?

Author

Marques, Paula, Moloney, Patrick B., Ji, Caihong, Zulfiqar Ali, Quratulain, Ramesh, Archana, Goldstein, David B., Barboza, Karen, Chandran, Ilakkiah, Rong, Marlene, Selvarajah, Arunan, Qaiser, Farah, Lira, Victor S.T., Valiante, Taufik A., Bazil, Carl W., Choi, Hyunmi, Devinsky, Orrin, Depondt, Chantal, O’Brien, Terence, Perucca, Piero, Sen, Arjune, Dugan, Patricia, Sands, Tristan T., Delanty, Norman, and Andrade, Danielle M.

Published
2024
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3. Mitochondrial biogenesis in white adipose tissue mediated by JMJD1A-PGC-1 axis limits age-related metabolic disease

Author

Ito, Ryo, Xie, Shiyu, Tumenjargal, Myagmar, Sugahara, Yuto, Yang, Chaoran, Takahashi, Hiroki, Arai, Makoto, Inoue, Shin-Ichi, Uchida, Aoi, Nakano, Kenji, Choi, Hyunmi, Yang, Ge, Zhao, Yanan, Yamaguchi, Rei, Jin, Hitomi, Sagae, Hina, Wada, Youichiro, Tanaka, Toshiya, Kimura, Hiroshi, Kodama, Tatsuhiko, Aburatani, Hiroyuki, Takeda, Kazuhisa, Inagaki, Takeshi, Osborne, Timothy F., Yoneshiro, Takeshi, Matsumura, Yoshihiro, and Sakai, Juro

Published
2024
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6. MYPT1-PP1β phosphatase negatively regulates both chromatin landscape and co-activator recruitment for beige adipogenesis

Author

Takahashi, Hiroki, Yang, Ge, Yoneshiro, Takeshi, Abe, Yohei, Ito, Ryo, Yang, Chaoran, Nakazono, Junna, Okamoto-Katsuyama, Mayumi, Uchida, Aoi, Arai, Makoto, Jin, Hitomi, Choi, Hyunmi, Tumenjargal, Myagmar, Xie, Shiyu, Zhang, Ji, Sagae, Hina, Zhao, Yanan, Yamaguchi, Rei, Nomura, Yu, Shimizu, Yuichi, Yamada, Kaito, Yasuda, Satoshi, Kimura, Hiroshi, Tanaka, Toshiya, Wada, Youichiro, Kodama, Tatsuhiko, Aburatani, Hiroyuki, Zhu, Min-Sheng, Inagaki, Takeshi, Osborne, Timothy F., Kawamura, Takeshi, Ishihama, Yasushi, Matsumura, Yoshihiro, and Sakai, Juro

Published
2022
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8. Racial/ethnic differences in the association of incident stroke with late onset epilepsy: The Northern Manhattan Study.

Author

Choi, Hyunmi, Thacker, Evan L., Liu, Minghua, Strobino, Kevin, Misiewicz, Sylwia, Rundek, Tatjana, Elkind, Mitchell S. V., and Gutierrez, Jose D.

Subjects
*STROKE, *ETHNIC differences, *RACE, *ETHNIC groups, *BLACK people
Abstract

Objective Methods Results Significance Little is known about the incidence of late onset epilepsy (LOE) across different racial/ethnic groups in the USA, particularly in the Hispanic population. Stroke, a strong predictor of LOE, is more common in non‐Hispanic Blacks (NHBs) and Hispanics than in non‐Hispanic Whites (NHWs). We assessed the incidence of LOE across racial/ethnic groups and examined whether the associations of stroke with LOE risk differ by race/ethnicity.The Northern Manhattan Study is a population‐based longitudinal study of older adults enrolled between 1993 and 2001. Participants free of history of stroke or epilepsy at baseline (n = 3419) were followed prospectively for incidence of LOE. We estimated LOE incidence per 1000 person‐years in each racial/ethnic group. We used Cox proportional hazards regression to assess the association of race/ethnicity with LOE and multiplicative interactions of race/ethnicity with incident stroke in relation to LOE, adjusting for demographics and comorbid diagnoses.During 51 176 person‐years of follow‐up, 183 individuals developed LOE. Incidence of LOE was significantly higher in NHBs (6.2 per 1000 person‐years) than in NHWs (3.3 per 1000 person‐years, p = .004). There was no significant difference in LOE incidence between NHWs (3.3 per 1000 person‐years) and Hispanics (2.6 per 1000 person‐years, p = .875). However, following incident stroke, the risk of LOE differed across racial/ethnic groups. Incident stroke was associated with 2.55 times the risk of LOE among NHWs (95% confidence interval [CI] = .88–7.35), 8.53 times the risk of LOE among Hispanics (95% CI = 5.36–13.57, p = .04 for stronger association than that in NHWs), and 6.46 times the risk of LOE among NHBs (95% CI = 3.79–11.01, p = .12 for stronger association than that in NHWs).We found a stronger association of incident stroke with LOE risk in Hispanics and NHBs than in NHWs, offering some insight into the racial/ethnic disparities of LOE incidence. [ABSTRACT FROM AUTHOR]

Published
2024
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11. Clinical outcomes among initial survivors of cryptogenic new‐onset refractory status epilepsy (NORSE)

Author

Costello, Daniel J., primary, Matthews, Elizabeth, additional, Aurangzeb, Sidra, additional, Doran, Elisabeth, additional, Stack, Jessica, additional, Wesselingh, Robb, additional, Dugan, Patricia, additional, Choi, Hyunmi, additional, Depondt, Chantal, additional, Devinsky, Orrin, additional, Doherty, Colin, additional, Kwan, Patrick, additional, Monif, Mastura, additional, O'Brien, Terence J., additional, Sen, Arjune, additional, and Gaspard, Nicolas, additional

Published
2024
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12. Tracking Multisite Seizure Propagation Using Ictal High-Gamma Activity

Author

Tobochnik, Steven, Bateman, Lisa M., Akman, Cigdem I., Anbarasan, Deepti, Bazil, Carl W., Bell, Michelle, Choi, Hyunmi, Feldstein, Neil A., Kent, Paul F., McBrian, Danielle, McKhann, Guy M., II, Mendiratta, Anil, Pack, Alison M., Sands, Tristan T., Sheth, Sameer A., Srinivasan, Shraddha, and Schevon, Catherine A.

Published
2022
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13. Clinical outcomes among initial survivors of cryptogenic new-onset refractory status epilepsy (NORSE)

Author

Costello, Daniel, Matthews, Elizabeth, Aurangzeb, Sidra, Doran, Elisabeth, Stack, Jessica, Wesselingh, Robb, Dugan, Patricia, Choi, Hyunmi, Depondt, Chantal, Devinsky, Orrin In, Doherty, Colin P, Kwan, Patrick, Monif, Mastura, O'Brien, Terence John, Sen, Arjune, Gaspard, Nicolas, Costello, Daniel, Matthews, Elizabeth, Aurangzeb, Sidra, Doran, Elisabeth, Stack, Jessica, Wesselingh, Robb, Dugan, Patricia, Choi, Hyunmi, Depondt, Chantal, Devinsky, Orrin In, Doherty, Colin P, Kwan, Patrick, Monif, Mastura, O'Brien, Terence John, Sen, Arjune, and Gaspard, Nicolas

Abstract

Objective: New-onset refractory status epilepticus (NORSE) is a rare but severe clinical syndrome. Despite rigorous evaluation, the underlying cause is unknown in 30%–50% of patients and treatment strategies are largely empirical. The aim of this study was to describe clinical outcomes in a cohort of well-phenotyped, thoroughly investigated patients who survived the initial phase of cryptogenic NORSE managed in specialist centers. Methods: Well-characterized cases of cryptogenic NORSE were identified through the EPIGEN and Critical Care EEG Monitoring Research Consortia (CCEMRC) during the period 2005–2019. Treating epileptologists reported on post-NORSE survival rates and sequelae in patients after discharge from hospital. Among survivors >6 months post-discharge, we report the rates and severity of active epilepsy, global disability, vocational, and global cognitive and mental health outcomes. We attempt to identify determinants of outcome. Results: Among 48 patients who survived the acute phase of NORSE to the point of discharge from hospital, 9 had died at last follow-up, of whom 7 died within 6 months of discharge from the tertiary care center. The remaining 39 patients had high rates of active epilepsy as well as vocational, cognitive, and psychiatric comorbidities. The epilepsy was usually multifocal and typically drug resistant. Only a minority of patients had a good functional outcome. Therapeutic interventions were heterogenous during the acute phase of the illness. There was no clear relationship between the nature of treatment and clinical outcomes. Significance: Among survivors of cryptogenic NORSE, longer-term outcomes in most patients were life altering and often catastrophic. Treatment remains empirical and variable. There is a pressing need to understand the etiology of cryptogenic NORSE and to develop tailored treatment strategies., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2024

20. Knowledge and beliefs about epilepsy genetics among Hispanic and non‐Hispanic patients

Author

Trujillo, Shannon, primary, Wetmore, John B., additional, Camarillo, Itzel A., additional, Misiewicz, Sylwia, additional, May, Halie, additional, Choi, Hyunmi, additional, Siegel, Karolynn, additional, Chung, Wendy K., additional, Phelan, Jo C., additional, Yang, Lawrence H., additional, Leu, Cheng‐Shiun, additional, Bergner, Amanda L., additional, and Ottman, Ruth, additional

Published
2023
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21. Clinical presentation and evaluation of epilepsy with eyelid myoclonia: Results of an international expert consensus panel

Author

Smith, Kelsey M., primary, Wirrell, Elaine C., additional, Andrade, Danielle M., additional, Choi, Hyunmi, additional, Trenité, Dorothée Kasteleijn‐Nolst, additional, Jones, Hannah, additional, Knupp, Kelly G., additional, Mugar, Jon, additional, Nordli, Douglas R., additional, Riva, Antonella, additional, Stern, John M., additional, Striano, Pasquale, additional, Thiele, Elizabeth A., additional, and Zawar, Ifrah, additional

Published
2023
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22. Management of epilepsy with eyelid myoclonia: Results of an international expert consensus panel

Author

Smith, Kelsey M., primary, Wirrell, Elaine C., additional, Andrade, Danielle M., additional, Choi, Hyunmi, additional, Trenité, Dorothée Kasteleijn‐Nolst, additional, Jones, Hannah, additional, Knupp, Kelly G., additional, Mugar, Jon, additional, Nordli, Douglas R., additional, Riva, Antonella, additional, Stern, John M., additional, Striano, Pasquale, additional, Thiele, Elizabeth A., additional, and Zawar, Ifrah, additional

Published
2023
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25. A Comprehensive Narrative Review of Epilepsy with Eyelid Myoclonia

Author

Smith, Kelsey M., primary, Wirrell, Elaine C., additional, Andrade, Danielle M., additional, Choi, Hyunmi, additional, Trenité, Dorothée Kasteleijn-Nolst, additional, Knupp, Kelly G., additional, Nordli, Douglas R., additional, Riva, Antonella, additional, Stern, John M., additional, Striano, Pasquale, additional, Thiele, Elizabeth A., additional, and Zawar, Ifrah, additional

Published
2023
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26. Mitochondrial Biogenesis in White Adipose Tissue Mediated by JMJD1A-PGC-1 Axis Limits Age-Related Metabolic Disease

Author

Ito, Ryo, primary, Xie, Shiyu, additional, Tumenjargal, Myagmar, additional, Sugahara, Yuto, additional, Yang, Chaoran, additional, Takahashi, Hiroki, additional, Arai, Makoto, additional, Inoue, Shin-Ichi, additional, Uchida, Aoi, additional, Nakano, Kenji, additional, Choi, Hyunmi, additional, Yang, Ge, additional, Zhao, Yanan, additional, Yamaguchi, Rei, additional, Jin, Hitomi, additional, Sagae, Hina, additional, Wada, Youichiro, additional, Tanaka, Toshiya, additional, Kimura, Hiroshi, additional, Kodama, Tatsuhiko, additional, Aburatani, Hiroyuki, additional, Takeda, Kazuhisa, additional, Inagaki, Takeshi, additional, Yoneshiro, Takeshi, additional, Osborne, Timothy F., additional, Matsumura, Yoshihiro, additional, and Sakai, Juro, additional

Published
2023
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29. Identification of patients with drug‐resistant epilepsy in electronic medical record data using the Observational Medical Outcomes Partnership Common Data Model

Author

Castano, Victor G., primary, Spotnitz, Matthew, additional, Waldman, Genna J., additional, Joiner, Evan F., additional, Choi, Hyunmi, additional, Ostropolets, Anna, additional, Natarajan, Karthik, additional, McKhann, Guy M., additional, Ottman, Ruth, additional, Neugut, Alfred I., additional, Hripcsak, George, additional, and Youngerman, Brett E., additional

Published
2022
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31. Laser ablation is effective for temporal lobe epilepsy with and without mesial temporal sclerosis if hippocampal seizure onsets are localized by stereoelectroencephalography

Author

Youngerman, Brett E., Oh, Justin Y., Anbarasan, Deepti, Billakota, Santoshi, Casadei, Camilla H., Corrigan, Emily K., Banks, Garret P., Pack, Alison M., Choi, Hyunmi, Bazil, Carl W., Srinivasan, Shraddha, Bateman, Lisa M., Schevon, Catherine A., Feldstein, Neil A., Sheth, Sameer A., McKhann, Guy M., II, Akman, Cigdem I., Bell, Michelle W., Cole, Jeffrey, Hamberger, Marla J., Kent, Paul F., Krish, Sonia N., Levy, Kirk J., Mandel, Arthur M., and Mendiratta, Anil

Published
2018
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32. Reproduction and genetic causal attribution of epilepsy

Author

Ottman, Ruth, primary, Wetmore, John B., additional, Camarillo, Itzel A., additional, Rodriguez, Sophia, additional, Misiewicz, Sylwia, additional, Siegel, Karolynn, additional, Chung, Wendy K., additional, Phelan, Jo C., additional, Leu, Chen‐Shiun, additional, Yang, Lawrence H., additional, and Choi, Hyunmi, additional

Published
2022
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34. Rare Genetic Variation and Outcome of Surgery for Mesial Temporal Lobe Epilepsy.

Author

Perucca, Piero, Stanley, Kate, Harris, Nicola N.J., McIntosh, Anne AM, Asadi-Pooya, Ali AA, Mikati, Mohamad A, Andrade, Danielle, Dugan, Patricia, Depondt, Chantal, Choi, Hyunmi, Heinzen, Erin L, Cavalleri, Gianpiero L, Buono, Russell J, Devinsky, Orrin In, Sperling, Michael MR, Berkovic, Samuel F, Delanty, Norman, Goldstein, David B, O'Brien, Terence, EPIGEN Consortium, Perucca, Piero, Stanley, Kate, Harris, Nicola N.J., McIntosh, Anne AM, Asadi-Pooya, Ali AA, Mikati, Mohamad A, Andrade, Danielle, Dugan, Patricia, Depondt, Chantal, Choi, Hyunmi, Heinzen, Erin L, Cavalleri, Gianpiero L, Buono, Russell J, Devinsky, Orrin In, Sperling, Michael MR, Berkovic, Samuel F, Delanty, Norman, Goldstein, David B, O'Brien, Terence, and EPIGEN Consortium

Abstract

Genetic factors have long been debated as a cause of failure of surgery for mesial temporal lobe epilepsy (MTLE). We investigated whether rare genetic variation influences seizure outcomes of MTLE surgery., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2022

35. Genomic analysis of “microphenotypes” in epilepsy

Author

Stanley, Kate, Hostyk, Joseph, Tran, Lanh T., Amengual‐Gual, Marta, Dugan, Patricia, Clark, Justice, Choi, Hyunmi, Tchapyjnikov, Dmitry, Perucca, Piero, Fernandes, Cecilia, Andrade, Danielle, Devinsky, Orrin In, Cavalleri, Gianpiero L, Depondt, Chantal, Sen, Arjune, O'Brien, Terence, Heinzen, Erin, Loddenkemper, Tobias, Goldstein, David B., Mikati, Mohamed A., Delanty, Norman, Stanley, Kate, Hostyk, Joseph, Tran, Lanh T., Amengual‐Gual, Marta, Dugan, Patricia, Clark, Justice, Choi, Hyunmi, Tchapyjnikov, Dmitry, Perucca, Piero, Fernandes, Cecilia, Andrade, Danielle, Devinsky, Orrin In, Cavalleri, Gianpiero L, Depondt, Chantal, Sen, Arjune, O'Brien, Terence, Heinzen, Erin, Loddenkemper, Tobias, Goldstein, David B., Mikati, Mohamed A., and Delanty, Norman

Abstract

Large international consortia examining the genomic architecture of the epilepsies focus on large diagnostic subgroupings such as “all focal epilepsy” and “all genetic generalized epilepsy”. In addition, phenotypic data are generally entered into these large discovery databases in a unidirectional manner at one point in time only. However, there are many smaller phenotypic subgroupings in epilepsy, many of which may have unique genomic risk factors. Such a subgrouping or “microphenotype” may be defined as an uncommon or rare phenotype that is well recognized by epileptologists and the epilepsy community, and which may or may not be formally recognized within the International League Against Epilepsy classification system. Here we examine the genetic structure of a number of such microphenotypes and report in particular on two interesting clinical phenotypes, Jeavons syndrome and pediatric status epilepticus. Although no single gene reached exome-wide statistical significance to be associated with any of the diagnostic categories, we observe enrichment of rare damaging variants in established epilepsy genes among Landau–Kleffner patients (GRIN2A) and pediatric status epilepticus patients (MECP2, SCN1A, SCN2A, SCN8A)., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2022

37. Rare Genetic Variation and Outcome of Surgery for Mesial Temporal Lobe Epilepsy.

Author

Perucca, Piero, Stanley, Kate, Harris, Natasha, McIntosh, Anne M., Asadi‐Pooya, Ali A., Mikati, Mohamad A., Andrade, Danielle M., Dugan, Patricia, Depondt, Chantal, Choi, Hyunmi, Heinzen, Erin L., Cavalleri, Gianpiero L., Buono, Russell J., Devinsky, Orrin, Sperling, Michael R., Berkovic, Samuel F., Delanty, Norman, Goldstein, David B., O'Brien, Terence J., and Andrade, Danielle

Subjects
TEMPORAL lobe epilepsy, TEMPORAL lobectomy, GENETIC variation, HIPPOCAMPAL sclerosis, MAGNETIC resonance imaging, MISSENSE mutation
Abstract

Objective: Genetic factors have long been debated as a cause of failure of surgery for mesial temporal lobe epilepsy (MTLE). We investigated whether rare genetic variation influences seizure outcomes of MTLE surgery. Methods: We performed an international, multicenter, whole exome sequencing study of patients who underwent surgery for drug‐resistant, unilateral MTLE with normal magnetic resonance imaging (MRI) or MRI evidence of hippocampal sclerosis and ≥2‐year postsurgical follow‐up. Patients with either sustained seizure freedom (favorable outcome) or ongoing uncontrolled seizures since surgery (unfavorable outcome) were included. Exomes of controls without epilepsy were also included. Gene set burden analyses were carried out to identify genes with significant enrichment of rare deleterious variants in patients compared to controls. Results: Nine centers from 3 continents contributed 206 patients operated for drug‐resistant unilateral MTLE, of whom 196 (149 with favorable outcome and 47 with unfavorable outcome) were included after stringent quality control. Compared to 8,718 controls, MTLE cases carried a higher burden of ultrarare missense variants in constrained genes that are intolerant to loss‐of‐function (LoF) variants (odds ratio [OR] = 2.6, 95% confidence interval [CI] = 1.9–3.5, p = 1.3E‐09) and in genes encoding voltage‐gated cation channels (OR = 2.4, 95% CI = 1.4–3.8, p = 2.7E‐04). Proportions of subjects with such variants were comparable between patients with favorable outcome and those with unfavorable outcome, with no significant between‐group differences. Interpretation: Rare variation contributes to the genetic architecture of MTLE, but does not appear to have a major role in failure of MTLE surgery. These findings can be incorporated into presurgical decision‐making and counseling. ANN NEUROL 2023;93:752–761 [ABSTRACT FROM AUTHOR]

Published
2023
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48. Tracking Multisite Seizure Propagation Using Ictal High-Gamma Activity

Author

Tobochnik, Steven, primary, Bateman, Lisa M., additional, Akman, Cigdem I., additional, Anbarasan, Deepti, additional, Bazil, Carl W., additional, Bell, Michelle, additional, Choi, Hyunmi, additional, Feldstein, Neil A., additional, Kent, Paul F., additional, McBrian, Danielle, additional, McKhann, Guy M., additional, Mendiratta, Anil, additional, Pack, Alison M., additional, Sands, Tristan T., additional, Sheth, Sameer A., additional, Srinivasan, Shraddha, additional, and Schevon, Catherine A., additional

Published
2021
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50. Tracking multi-site seizure propagation using ictal high frequency activity

Author

Tobochnik, Steven, primary, Bateman, Lisa M., additional, Akman, Cigdem I., additional, Anbarasan, Deepti, additional, Bazil, Carl W., additional, Bell, Michelle, additional, Choi, Hyunmi, additional, Feldstein, Neil A., additional, Kent, Paul F., additional, McBrian, Danielle, additional, McKhann, Guy M., additional, Mendiratta, Anil, additional, Pack, Alison M., additional, Sands, Tristan T., additional, Sheth, Sameer A., additional, Srinivasan, Shraddha, additional, and Schevon, Catherine A., additional

Published
2020
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