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Seizures and lactic acidosis

MedGen UID:
865040
Concept ID:
C4016603
Finding
Synonym: SEIZURES AND LACTIC ACIDOSIS
 
OMIM®: 516050; 516060

Professional guidelines

PubMed

Na JH, Lee YM
Biomolecules 2024 Nov 28;14(12) doi: 10.3390/biom14121524. PMID: 39766231Free PMC Article
Tetsuka S, Ogawa T, Hashimoto R, Kato H
Metab Brain Dis 2021 Dec;36(8):2181-2193. Epub 2021 Jun 12 doi: 10.1007/s11011-021-00772-x. PMID: 34118021
Winstanley PA
J R Coll Physicians Lond 1992 Oct;26(4):445-9. PMID: 1359133Free PMC Article

Recent clinical studies

Etiology

Kahveci F, Gün E, Balaban B, Ucmak H, Tuna Kirsaçlioğlu C, Balci D, Koloğlu M, Kendirli T
Exp Clin Transplant 2023 Jul;21(7):623-625. Epub 2021 Oct 19 doi: 10.6002/ect.2021.0249. PMID: 34763632
Ng YS, Lax NZ, Blain AP, Erskine D, Baker MR, Polvikoski T, Thomas RH, Morris CM, Lai M, Whittaker RG, Gebbels A, Winder A, Hall J, Feeney C, Farrugia ME, Hirst C, Roberts M, Lawthom C, Chrysostomou A, Murphy K, Baird T, Maddison P, Duncan C, Poulton J, Nesbitt V, Hanna MG, Pitceathly RDS, Taylor RW, Blakely EL, Schaefer AM, Turnbull DM, McFarland R, Gorman GS
Brain 2022 Apr 18;145(2):542-554. doi: 10.1093/brain/awab353. PMID: 34927673Free PMC Article
Mehrazin M, Shanske S, Kaufmann P, Wei Y, Coku J, Engelstad K, Naini A, De Vivo DC, DiMauro S
Am J Med Genet A 2009 Feb 15;149A(4):584-7. doi: 10.1002/ajmg.a.32703. PMID: 19253345Free PMC Article
Sproule DM, Kaufmann P
Ann N Y Acad Sci 2008 Oct;1142:133-58. doi: 10.1196/annals.1444.011. PMID: 18990125
Krishna S, Waller DW, ter Kuile F, Kwiatkowski D, Crawley J, Craddock CF, Nosten F, Chapman D, Brewster D, Holloway PA
Trans R Soc Trop Med Hyg 1994 Jan-Feb;88(1):67-73. doi: 10.1016/0035-9203(94)90504-5. PMID: 8154008

Diagnosis

Tetsuka S, Ogawa T, Hashimoto R, Kato H
Metab Brain Dis 2021 Dec;36(8):2181-2193. Epub 2021 Jun 12 doi: 10.1007/s11011-021-00772-x. PMID: 34118021
Balachandran Nair D, Bloomfield M, Parasuraman R, Howe DT
BMJ Case Rep 2021 Apr 7;14(4) doi: 10.1136/bcr-2020-235111. PMID: 33827862Free PMC Article
Kamal-Salah R, Baquero-Aranda I, Grana-Pérez Mdel M, García-Campos JM
BMJ Case Rep 2015 Mar 12;2015 doi: 10.1136/bcr-2014-206499. PMID: 25766436Free PMC Article
Andersen LW, Mackenhauer J, Roberts JC, Berg KM, Cocchi MN, Donnino MW
Mayo Clin Proc 2013 Oct;88(10):1127-40. doi: 10.1016/j.mayocp.2013.06.012. PMID: 24079682Free PMC Article
Listernick R
Pediatr Ann 2002 Sep;31(9):536-8, 541. doi: 10.3928/0090-4481-20020901-04. PMID: 12271738

Therapy

Khurana DS, Valencia I, Goldenthal MJ, Legido A
Semin Pediatr Neurol 2013 Sep;20(3):176-87. Epub 2013 Oct 9 doi: 10.1016/j.spen.2013.10.001. PMID: 24331359
Abraham MB, van der Westhuyzen J, Khanna V
J Paediatr Child Health 2012 Mar;48(3):E96-7. Epub 2011 Apr 29 doi: 10.1111/j.1440-1754.2011.02074.x. PMID: 21535285
Proudfoot AT, Bradberry SM, Vale JA
Toxicol Rev 2006;25(4):213-9. doi: 10.2165/00139709-200625040-00002. PMID: 17288493
Krishna S, Waller DW, ter Kuile F, Kwiatkowski D, Crawley J, Craddock CF, Nosten F, Chapman D, Brewster D, Holloway PA
Trans R Soc Trop Med Hyg 1994 Jan-Feb;88(1):67-73. doi: 10.1016/0035-9203(94)90504-5. PMID: 8154008
Gordon AM Jr, Richards DW
JACEP 1979 Dec;8(12):520-2. doi: 10.1016/s0361-1124(79)80299-3. PMID: 513408

Prognosis

Ng YS, Lax NZ, Blain AP, Erskine D, Baker MR, Polvikoski T, Thomas RH, Morris CM, Lai M, Whittaker RG, Gebbels A, Winder A, Hall J, Feeney C, Farrugia ME, Hirst C, Roberts M, Lawthom C, Chrysostomou A, Murphy K, Baird T, Maddison P, Duncan C, Poulton J, Nesbitt V, Hanna MG, Pitceathly RDS, Taylor RW, Blakely EL, Schaefer AM, Turnbull DM, McFarland R, Gorman GS
Brain 2022 Apr 18;145(2):542-554. doi: 10.1093/brain/awab353. PMID: 34927673Free PMC Article
Reda HM, Copen WA, Karaa A, Oakley DH
N Engl J Med 2017 Apr 27;376(17):1668-1678. doi: 10.1056/NEJMcpc1616022. PMID: 28445665
Andersen LW, Mackenhauer J, Roberts JC, Berg KM, Cocchi MN, Donnino MW
Mayo Clin Proc 2013 Oct;88(10):1127-40. doi: 10.1016/j.mayocp.2013.06.012. PMID: 24079682Free PMC Article
Rahman S
Dev Med Child Neurol 2012 May;54(5):397-406. Epub 2012 Jan 28 doi: 10.1111/j.1469-8749.2011.04214.x. PMID: 22283595
Krishna S, Waller DW, ter Kuile F, Kwiatkowski D, Crawley J, Craddock CF, Nosten F, Chapman D, Brewster D, Holloway PA
Trans R Soc Trop Med Hyg 1994 Jan-Feb;88(1):67-73. doi: 10.1016/0035-9203(94)90504-5. PMID: 8154008

Clinical prediction guides

Yang X, Sun A, Ji K, Wang X, Yang X, Zhao X
Seizure 2023 Mar;106:110-116. Epub 2023 Feb 18 doi: 10.1016/j.seizure.2023.02.014. PMID: 36827862
Ng YS, Lax NZ, Blain AP, Erskine D, Baker MR, Polvikoski T, Thomas RH, Morris CM, Lai M, Whittaker RG, Gebbels A, Winder A, Hall J, Feeney C, Farrugia ME, Hirst C, Roberts M, Lawthom C, Chrysostomou A, Murphy K, Baird T, Maddison P, Duncan C, Poulton J, Nesbitt V, Hanna MG, Pitceathly RDS, Taylor RW, Blakely EL, Schaefer AM, Turnbull DM, McFarland R, Gorman GS
Brain 2022 Apr 18;145(2):542-554. doi: 10.1093/brain/awab353. PMID: 34927673Free PMC Article
Mehrazin M, Shanske S, Kaufmann P, Wei Y, Coku J, Engelstad K, Naini A, De Vivo DC, DiMauro S
Am J Med Genet A 2009 Feb 15;149A(4):584-7. doi: 10.1002/ajmg.a.32703. PMID: 19253345Free PMC Article
Proudfoot AT, Bradberry SM, Vale JA
Toxicol Rev 2006;25(4):213-9. doi: 10.2165/00139709-200625040-00002. PMID: 17288493
Snyman T, Stewart MJ, Grove A, Steenkamp V
Ther Drug Monit 2005 Feb;27(1):86-9. doi: 10.1097/00007691-200502000-00015. PMID: 15665751

Recent systematic reviews

Parker-Cote JL, Rizer J, Vakkalanka JP, Rege SV, Holstege CP
Clin Toxicol (Phila) 2018 Jul;56(7):609-617. Epub 2018 Feb 8 doi: 10.1080/15563650.2018.1435886. PMID: 29417853
East CE, Leader LR, Sheehan P, Henshall NE, Colditz PB, Lau R
Cochrane Database Syst Rev 2015 May 1;2015(5):CD006174. doi: 10.1002/14651858.CD006174.pub3. PMID: 25929461Free PMC Article

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