2023 美國癲癇學會年會薈萃報道（五）_Journal of Epilepsy

Authors：

王培宇 , 陸璐 , 陳蕾 , 周東

1. ;

Corresponding?author：

Keywords：

癲癇; 新生兒癲癇; 基因檢測; 精準醫學; 循證醫學

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美國癲癇學會（American Epilepsy Society，AES）年會是每年一度國際癲癇學界及工業界最受關注的會議。本年度的AES年會自2023年12月1日在奧蘭多召開，為期5天，討論了目前最受關注的癲癇學術領域及重點突破。本系列文章將分為五期，分別對大會每日的精彩內容進行薈萃報道：本文對大會第五日學術議程的內容進行了整理匯總，重點內容包括新生兒癲癇的基因檢測、自動化癲癇檢測、腦電監測、精準醫學、最新循證醫學證據等。

Citation： 王培宇, 陸璐, 陳蕾, 周東. 2023 美國癲癇學會年會薈萃報道（五）. Journal of Epilepsy, 2024, 10(2): 184-187. doi: Copy

1.	Rakhade SN, Jensen FE. Epileptogenesis in the immature brain: emerging mechanisms. Nature Reviews. Neurology, 2009, 5(7): 380-391.
2.	de Marchena J, Roberts AC, Middlebrooks PG, et al. NMDA receptor antagonists reveal age-dependent differences in the properties of visual cortical plasticity. Journal of Neurophysiology, 2008, 100(4): 1936-1948.
3.	Kumar SS, Bacci A, Kharazia V, et al. A developmental switch of AMPA receptor subunits in neocortical pyramidal neurons. The Journal of Neuroscience, 2002, 22(8): 3005-3015.
4.	Jensen FE. Neonatal seizures: an update on mechanisms and management. Clinics in Perinatology, 2009, 36(4): 881-900,vii.
5.	Silverstein F S, Jensen F E. Neonatal seizures. Annals of Neurology, 2007, 62(2): 112-120.
6.	Zuberi SM, Wirrell E, Yozawitz E, et al. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia, 2022, 63(6): 1349-1397.
7.	季濤云, 馮衛星, 張凱, 等. 《新生兒和嬰兒期起病的癲癇綜合征的ILAE分類與定義: ILAE疾病分類和定義工作組的立場聲明》的解讀. 癲癇雜志, 2022, 8(5): 395-399.
8.	Sandoval Karamian AG, Wusthoff CJ. Current and future uses of continuous EEG in the NICU. Frontiers in Pediatrics, 2021, 9: 768670.
9.	Shellhaas RA, Chang T, Tsuchida T, et al. The American Clinical Neurophysiology Society’s Guideline on Continuous Electroencephalography Monitoring in Neonates. Journal of Clinical Neurophysiology, 2011, 28(6): 611-617.
10.	Shah DK, de Vries LS, Hellstr?m-Westas L, et al. Amplitude-integrated electroencephalography in the newborn: a valuable tool. Pediatrics, 2008, 122(4): 863-865.
11.	Rennie JM, Chorley G, Boylan GB, et al. Non-expert use of the cerebral function monitor for neonatal seizure detection. Archives of Disease in Childhood. Fetal and Neonatal Edition, 2004, 89(1): F37-40.
12.	Temko A, Lightbody G. Detecting neonatal seizures with computer algorithms. Journal of Clinical Neurophysiology, 2016, 33(5): 394-402.
13.	Mathieson SR, Stevenson NJ, Low E, et al. Validation of an automated seizure detection algorithm for term neonates. Clinical Neurophysiology, 2016, 127(1): 156-168.
14.	Pavel AM, Rennie JM, de Vries LS, et al. A machine-learning algorithm for neonatal seizure recognition: a multicentre, randomised, controlled trial. The Lancet Child & Adolescent Health, 2020, 4(10): 740-749.
15.	Ansari AH, Cherian PJ, Dereymaeker A, et al. Improved multi-stage neonatal seizure detection using a heuristic classifier and a data-driven post-processor. Clinical Neurophysiology, 2016, 127(9): 3014-3024.
16.	Raeisi K, Khazaei M, Croce P, et al. A graph convolutional neural network for the automated detection of seizures in the neonatal EEG. Computer Methods and Programs in Biomedicine, 2022, 222: 106950.
17.	Bustamante-Hervás C, Valverde E, Vega-Del-Val C, et al. Inter-observer reliability for amplitude-integrated EEG in the newborn with perinatal asphyxia. Anales De Pediatria, 2021, S1695-4033(21): 00116-8.
18.	Tamburro G, Croce P, Zappasodi F, et al. Automated detection and removal of cardiac and pulse interferences from neonatal EEG signals. Sensors (Basel, Switzerland), 2021, 21(19): 6364.
19.	Martin JR, Gabriel PG, Gold JJ, et al. Optical flow estimation improves automated seizure detection in neonatal EEG. Journal of Clinical Neurophysiology, 2022, 39(3): 235-239.
20.	McQuillen PS, Goff DA, Licht DJ. Effects of congenital heart disease on brain development. Progress in Pediatric Cardiology, 2010, 29(2): 79-85.
21.	Massey SL, Abend NS, Gaynor JW, et al. Electroencephalographic patterns preceding cardiac arrest in neonates following cardiac surgery. Resuscitation, 2019, 144: 67-74.
22.	Claessens NHP, Noorlag L, Weeke LC, et al. Amplitude-integrated electroencephalography for early recognition of brain injury in neonates with critical congenital heart disease. The Journal of Pediatrics, 2018, 202: 199-205. e1.
23.	Lin R, Du N, Feng J, et al. Perioperative EEG background and discharge abnormalities in children undergoing cardiac surgery: a prospective single-centre observational study. British Journal of Anaesthesia, 2023, 131(2): 360-372.
24.	Gunn JK, Beca J, Hunt RW, et al. Perioperative amplitude-integrated EEG and neurodevelopment in infants with congenital heart disease. Intensive Care Medicine, 2012, 38(9): 1539-1547.
25.	Hermans T, Thewissen L, Gewillig M, et al. Functional brain maturation and sleep organisation in neonates with congenital heart disease. European Journal of Paediatric Neurology, 2022, 36: 115-122.
26.	Naim MY, Gaynor JW, Chen J, et al. Subclinical seizures identified by postoperative electroencephalographic monitoring are common after neonatal cardiac surgery. The Journal of Thoracic and Cardiovascular Surgery, 2015, 150(1): 169–178; discussion 178-180.
27.	Gaynor JW, Jarvik GP, Bernbaum J, et al. The relationship of postoperative electrographic seizures to neurodevelopmental outcome at 1 year of age after neonatal and infant cardiac surgery. The Journal of Thoracic and Cardiovascular Surgery, 2006, 131(1): 181-189.
28.	Rappaport LA, Wypij D, Bellinger DC, et al. Relation of seizures after cardiac surgery in early infancy to neurodevelopmental outcome. Boston Circulatory Arrest Study Group. Circulation, 1998, 97(8): 773-779.
29.	Gaynor JW, Jarvik GP, Gerdes M, et al. Postoperative electroencephalographic seizures are associated with deficits in executive function and social behaviors at 4 years of age following cardiac surgery in infancy. The Journal of Thoracic and Cardiovascular Surgery, 2013, 146(1): 132-137.
30.	Bellinger DC, Wypij D, Kuban KC, et al. Developmental and neurological status of children at 4 years of age after heart surgery with hypothermic circulatory arrest or low-flow cardiopulmonary bypass. Circulation, 1999, 100(5): 526-532.
31.	Sl M, Hc G, Ra S, et al. Characteristics of neonates with cardiopulmonary disease who experience seizures: a multicenter study. The Journal of pediatrics, 2022, 242.
32.	Thibault C, Massey SL, Naim MY, et al. Population Pharmacokinetics of IV Phenobarbital in Neonates After Congenital Heart Surgery. Pediatric Critical Care Medicine, 2020, 21(8): e557-e565.
33.	Massey SL, Weinerman B, Naim MY. Perioperative neuromonitoring in children with congenital heart disease. Neurocritical Care, 2023, 115: 253-256.
34.	Olson H, Shen Y, Avallone J, et al. Copy number variation plays an important role in clinical epilepsy. Annals of Neurology, 2014, 75(6): 943-958.
35.	Kothur K, Holman K, Farnsworth E, et al. Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy. Seizure, 2018, 59: 132-140.
36.	Kim S Y, Jang S S, Kim H, et al. Genetic diagnosis of infantile-onset epilepsy in the clinic: Application of whole-exome sequencing following epilepsy gene panel testing. Clinical Genetics, 2021, 99(3): 418-424.
37.	Palmer EE, Sachdev R, Macintosh R, et al. Diagnostic yield of whole genome sequencing after nondiagnostic exome sequencing or gene panel in developmental and epileptic encephalopathies. Neurology, 2021, 96(13): e1770-e1782.
38.	McKnight D, Morales A, Hatchell KE, et al. Genetic testing to inform epilepsy treatment management from an international study of clinical practice. JAMA Neurology, 2022, 79(12): 1267-1276.
39.	Li M, Jancovski N, Jafar-Nejad P, et al. Antisense oligonucleotide therapy reduces seizures and extends life span in an SCN2A gain-of-function epilepsy model. The Journal of Clinical Investigation, 2021, 131(23): e152079.
40.	Sharpe C, Reiner GE, Davis S L, et al. Levetiracetam versus phenobarbital for neonatal seizures: a randomized controlled trial. Pediatrics, 2020, 145(6): e20193182.
41.	Painter MJ, Scher MS, Stein AD, et al. Phenobarbital compared with phenytoin for the treatment of neonatal seizures. The New England Journal of Medicine, 1999, 341(7): 485-489.
42.	Mulley JC, Scheffer IE, Petrou S, et al. Channelopathies as a genetic cause of epilepsy. Current Opinion in Neurology, 2003, 16(2): 171-176.
43.	Pressler RM, Abend NS, Auvin S, et al. Treatment of seizures in the neonate: guidelines and consensus-based recommendations-Special report from the ILAE Task Force on Neonatal Seizures. Epilepsia, 2023, 64(10): 2550-2570.
44.	Glass HC, Soul JS, Chang T, et al. Safety of early discontinuation of antiseizure medication after acute symptomatic neonatal seizures. JAMA Neurology, 2021, 78(7): 817-825.

1. Rakhade SN, Jensen FE. Epileptogenesis in the immature brain: emerging mechanisms. Nature Reviews. Neurology, 2009, 5(7): 380-391.
2. de Marchena J, Roberts AC, Middlebrooks PG, et al. NMDA receptor antagonists reveal age-dependent differences in the properties of visual cortical plasticity. Journal of Neurophysiology, 2008, 100(4): 1936-1948.
3. Kumar SS, Bacci A, Kharazia V, et al. A developmental switch of AMPA receptor subunits in neocortical pyramidal neurons. The Journal of Neuroscience, 2002, 22(8): 3005-3015.
4. Jensen FE. Neonatal seizures: an update on mechanisms and management. Clinics in Perinatology, 2009, 36(4): 881-900,vii.
5. Silverstein F S, Jensen F E. Neonatal seizures. Annals of Neurology, 2007, 62(2): 112-120.
6. Zuberi SM, Wirrell E, Yozawitz E, et al. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia, 2022, 63(6): 1349-1397.
7. 季濤云, 馮衛星, 張凱, 等. 《新生兒和嬰兒期起病的癲癇綜合征的ILAE分類與定義: ILAE疾病分類和定義工作組的立場聲明》的解讀. 癲癇雜志, 2022, 8(5): 395-399.
8. Sandoval Karamian AG, Wusthoff CJ. Current and future uses of continuous EEG in the NICU. Frontiers in Pediatrics, 2021, 9: 768670.
9. Shellhaas RA, Chang T, Tsuchida T, et al. The American Clinical Neurophysiology Society’s Guideline on Continuous Electroencephalography Monitoring in Neonates. Journal of Clinical Neurophysiology, 2011, 28(6): 611-617.
10. Shah DK, de Vries LS, Hellstr?m-Westas L, et al. Amplitude-integrated electroencephalography in the newborn: a valuable tool. Pediatrics, 2008, 122(4): 863-865.
11. Rennie JM, Chorley G, Boylan GB, et al. Non-expert use of the cerebral function monitor for neonatal seizure detection. Archives of Disease in Childhood. Fetal and Neonatal Edition, 2004, 89(1): F37-40.
12. Temko A, Lightbody G. Detecting neonatal seizures with computer algorithms. Journal of Clinical Neurophysiology, 2016, 33(5): 394-402.
13. Mathieson SR, Stevenson NJ, Low E, et al. Validation of an automated seizure detection algorithm for term neonates. Clinical Neurophysiology, 2016, 127(1): 156-168.
14. Pavel AM, Rennie JM, de Vries LS, et al. A machine-learning algorithm for neonatal seizure recognition: a multicentre, randomised, controlled trial. The Lancet Child & Adolescent Health, 2020, 4(10): 740-749.
15. Ansari AH, Cherian PJ, Dereymaeker A, et al. Improved multi-stage neonatal seizure detection using a heuristic classifier and a data-driven post-processor. Clinical Neurophysiology, 2016, 127(9): 3014-3024.
16. Raeisi K, Khazaei M, Croce P, et al. A graph convolutional neural network for the automated detection of seizures in the neonatal EEG. Computer Methods and Programs in Biomedicine, 2022, 222: 106950.
17. Bustamante-Hervás C, Valverde E, Vega-Del-Val C, et al. Inter-observer reliability for amplitude-integrated EEG in the newborn with perinatal asphyxia. Anales De Pediatria, 2021, S1695-4033(21): 00116-8.
18. Tamburro G, Croce P, Zappasodi F, et al. Automated detection and removal of cardiac and pulse interferences from neonatal EEG signals. Sensors (Basel, Switzerland), 2021, 21(19): 6364.
19. Martin JR, Gabriel PG, Gold JJ, et al. Optical flow estimation improves automated seizure detection in neonatal EEG. Journal of Clinical Neurophysiology, 2022, 39(3): 235-239.
20. McQuillen PS, Goff DA, Licht DJ. Effects of congenital heart disease on brain development. Progress in Pediatric Cardiology, 2010, 29(2): 79-85.
21. Massey SL, Abend NS, Gaynor JW, et al. Electroencephalographic patterns preceding cardiac arrest in neonates following cardiac surgery. Resuscitation, 2019, 144: 67-74.
22. Claessens NHP, Noorlag L, Weeke LC, et al. Amplitude-integrated electroencephalography for early recognition of brain injury in neonates with critical congenital heart disease. The Journal of Pediatrics, 2018, 202: 199-205. e1.
23. Lin R, Du N, Feng J, et al. Perioperative EEG background and discharge abnormalities in children undergoing cardiac surgery: a prospective single-centre observational study. British Journal of Anaesthesia, 2023, 131(2): 360-372.
24. Gunn JK, Beca J, Hunt RW, et al. Perioperative amplitude-integrated EEG and neurodevelopment in infants with congenital heart disease. Intensive Care Medicine, 2012, 38(9): 1539-1547.
25. Hermans T, Thewissen L, Gewillig M, et al. Functional brain maturation and sleep organisation in neonates with congenital heart disease. European Journal of Paediatric Neurology, 2022, 36: 115-122.
26. Naim MY, Gaynor JW, Chen J, et al. Subclinical seizures identified by postoperative electroencephalographic monitoring are common after neonatal cardiac surgery. The Journal of Thoracic and Cardiovascular Surgery, 2015, 150(1): 169–178; discussion 178-180.
27. Gaynor JW, Jarvik GP, Bernbaum J, et al. The relationship of postoperative electrographic seizures to neurodevelopmental outcome at 1 year of age after neonatal and infant cardiac surgery. The Journal of Thoracic and Cardiovascular Surgery, 2006, 131(1): 181-189.
28. Rappaport LA, Wypij D, Bellinger DC, et al. Relation of seizures after cardiac surgery in early infancy to neurodevelopmental outcome. Boston Circulatory Arrest Study Group. Circulation, 1998, 97(8): 773-779.
29. Gaynor JW, Jarvik GP, Gerdes M, et al. Postoperative electroencephalographic seizures are associated with deficits in executive function and social behaviors at 4 years of age following cardiac surgery in infancy. The Journal of Thoracic and Cardiovascular Surgery, 2013, 146(1): 132-137.
30. Bellinger DC, Wypij D, Kuban KC, et al. Developmental and neurological status of children at 4 years of age after heart surgery with hypothermic circulatory arrest or low-flow cardiopulmonary bypass. Circulation, 1999, 100(5): 526-532.
31. Sl M, Hc G, Ra S, et al. Characteristics of neonates with cardiopulmonary disease who experience seizures: a multicenter study. The Journal of pediatrics, 2022, 242.
32. Thibault C, Massey SL, Naim MY, et al. Population Pharmacokinetics of IV Phenobarbital in Neonates After Congenital Heart Surgery. Pediatric Critical Care Medicine, 2020, 21(8): e557-e565.
33. Massey SL, Weinerman B, Naim MY. Perioperative neuromonitoring in children with congenital heart disease. Neurocritical Care, 2023, 115: 253-256.
34. Olson H, Shen Y, Avallone J, et al. Copy number variation plays an important role in clinical epilepsy. Annals of Neurology, 2014, 75(6): 943-958.
35. Kothur K, Holman K, Farnsworth E, et al. Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy. Seizure, 2018, 59: 132-140.
36. Kim S Y, Jang S S, Kim H, et al. Genetic diagnosis of infantile-onset epilepsy in the clinic: Application of whole-exome sequencing following epilepsy gene panel testing. Clinical Genetics, 2021, 99(3): 418-424.
37. Palmer EE, Sachdev R, Macintosh R, et al. Diagnostic yield of whole genome sequencing after nondiagnostic exome sequencing or gene panel in developmental and epileptic encephalopathies. Neurology, 2021, 96(13): e1770-e1782.
38. McKnight D, Morales A, Hatchell KE, et al. Genetic testing to inform epilepsy treatment management from an international study of clinical practice. JAMA Neurology, 2022, 79(12): 1267-1276.
39. Li M, Jancovski N, Jafar-Nejad P, et al. Antisense oligonucleotide therapy reduces seizures and extends life span in an SCN2A gain-of-function epilepsy model. The Journal of Clinical Investigation, 2021, 131(23): e152079.
40. Sharpe C, Reiner GE, Davis S L, et al. Levetiracetam versus phenobarbital for neonatal seizures: a randomized controlled trial. Pediatrics, 2020, 145(6): e20193182.
41. Painter MJ, Scher MS, Stein AD, et al. Phenobarbital compared with phenytoin for the treatment of neonatal seizures. The New England Journal of Medicine, 1999, 341(7): 485-489.
42. Mulley JC, Scheffer IE, Petrou S, et al. Channelopathies as a genetic cause of epilepsy. Current Opinion in Neurology, 2003, 16(2): 171-176.
43. Pressler RM, Abend NS, Auvin S, et al. Treatment of seizures in the neonate: guidelines and consensus-based recommendations-Special report from the ILAE Task Force on Neonatal Seizures. Epilepsia, 2023, 64(10): 2550-2570.
44. Glass HC, Soul JS, Chang T, et al. Safety of early discontinuation of antiseizure medication after acute symptomatic neonatal seizures. JAMA Neurology, 2021, 78(7): 817-825.

Journal of Epilepsy

2023 美國癲癇學會年會薈萃報道（五）

Abstract Full text Figures/Tables Video References Cited by

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