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Amino acid or protein metabolism disease with epilepsy

MedGen UID:
1842207
Concept ID:
C5680894
Disease or Syndrome
Orphanet: ORPHA225689

Professional guidelines

PubMed

Dart RC, Mullins ME, Matoushek T, Ruha AM, Burns MM, Simone K, Beuhler MC, Heard KJ, Mazer-Amirshahi M, Stork CM, Varney SM, Funk AR, Cantrell LF, Cole JB, Banner W, Stolbach AI, Hendrickson RG, Lucyk SN, Sivilotti MLA, Su MK, Nelson LS, Rumack BH
JAMA Netw Open 2023 Aug 1;6(8):e2327739. doi: 10.1001/jamanetworkopen.2023.27739. PMID: 37552484
Soh SB, Aw TC
Ann Lab Med 2019 Jan;39(1):3-14. doi: 10.3343/alm.2019.39.1.3. PMID: 30215224Free PMC Article
Stasiowska MK, Ng SC, Gubbay AN, Cregg R
Br J Hosp Med (Lond) 2015 Oct;76(10):570-5. doi: 10.12968/hmed.2015.76.10.570. PMID: 26457937

Recent clinical studies

Etiology

Holeček M
Physiol Res 2022 Mar 25;71(1):29-45. Epub 2022 Jan 19 doi: 10.33549/physiolres.934790. PMID: 35043647Free PMC Article
Mullen SA, Berkovic SF; ILAE Genetics Commission
Epilepsia 2018 Jun;59(6):1148-1153. Epub 2018 May 9 doi: 10.1111/epi.14042. PMID: 29741207
Williams CA, Battaglia A
Exp Neurol 2013 Jun;244:51-8. Epub 2011 Dec 9 doi: 10.1016/j.expneurol.2011.12.001. PMID: 22178301
Steinlein OK
Dialogues Clin Neurosci 2008;10(1):29-38. doi: 10.31887/DCNS.2008.10.1/oksteinlein. PMID: 18472482Free PMC Article
Brooks-Kayal AR
Epilepsia 2005;46 Suppl 7:29-38. doi: 10.1111/j.1528-1167.2005.00301.x. PMID: 16201993

Diagnosis

Koch H, Weber YG
Epilepsy Behav 2019 Feb;91:90-93. Epub 2018 Jul 31 doi: 10.1016/j.yebeh.2018.06.010. PMID: 30076047
Hon KL, Leung AKC, Torres AR
Recent Pat Inflamm Allergy Drug Discov 2018;12(2):128-135. doi: 10.2174/1872213X12666180508122450. PMID: 29745347
Mullen SA, Berkovic SF; ILAE Genetics Commission
Epilepsia 2018 Jun;59(6):1148-1153. Epub 2018 May 9 doi: 10.1111/epi.14042. PMID: 29741207
Szökő É, Vincze I, Tábi T
J Pharm Biomed Anal 2016 Oct 25;130:100-109. Epub 2016 Jul 1 doi: 10.1016/j.jpba.2016.06.054. PMID: 27435607
Steinlein OK
Dialogues Clin Neurosci 2008;10(1):29-38. doi: 10.31887/DCNS.2008.10.1/oksteinlein. PMID: 18472482Free PMC Article

Therapy

Ostermann M, Shaw AD
N Engl J Med 2024 Aug 22;391(8):759-760. doi: 10.1056/NEJMe2408632. PMID: 39167812
Zhu H, Bi D, Zhang Y, Kong C, Du J, Wu X, Wei Q, Qin H
Signal Transduct Target Ther 2022 Jan 17;7(1):11. doi: 10.1038/s41392-021-00831-w. PMID: 35034957Free PMC Article
Sills GJ, Rogawski MA
Neuropharmacology 2020 May 15;168:107966. Epub 2020 Jan 14 doi: 10.1016/j.neuropharm.2020.107966. PMID: 32120063
Molinier-Frenkel V, Castellano F
FEBS Lett 2017 Oct;591(19):3135-3157. Epub 2017 Aug 30 doi: 10.1002/1873-3468.12784. PMID: 28792588
Toledano M, Pittock SJ
Semin Neurol 2015 Jun;35(3):245-58. Epub 2015 Jun 10 doi: 10.1055/s-0035-1552625. PMID: 26060904

Prognosis

Church DD, Hirsch KR, Park S, Kim IY, Gwin JA, Pasiakos SM, Wolfe RR, Ferrando AA
Nutrients 2020 Dec 2;12(12) doi: 10.3390/nu12123717. PMID: 33276485Free PMC Article
Vezzani A, Balosso S, Ravizza T
Nat Rev Neurol 2019 Aug;15(8):459-472. Epub 2019 Jul 1 doi: 10.1038/s41582-019-0217-x. PMID: 31263255
Hon KL, Leung AKC, Torres AR
Recent Pat Inflamm Allergy Drug Discov 2018;12(2):128-135. doi: 10.2174/1872213X12666180508122450. PMID: 29745347
Walker LE, Janigro D, Heinemann U, Riikonen R, Bernard C, Patel M
Epilepsia 2016 Sep;57(9):1354-62. Epub 2016 Jul 4 doi: 10.1111/epi.13460. PMID: 27374986Free PMC Article
Baron R, Ferriero DM, Frisoni GB, Bettegowda C, Gokaslan ZL, Kessler JA, Vezzani A, Waxman SG, Jarius S, Wildemann B, Weller M
Nat Rev Neurol 2015 Nov;11(11):658-64. Epub 2015 Oct 27 doi: 10.1038/nrneurol.2015.196. PMID: 26503922

Clinical prediction guides

Scheffer IE, Zuberi S, Mefford HC, Guerrini R, McTague A
Nat Rev Dis Primers 2024 Sep 5;10(1):61. doi: 10.1038/s41572-024-00546-6. PMID: 39237642
Wilmanski T, Diener C, Rappaport N, Patwardhan S, Wiedrick J, Lapidus J, Earls JC, Zimmer A, Glusman G, Robinson M, Yurkovich JT, Kado DM, Cauley JA, Zmuda J, Lane NE, Magis AT, Lovejoy JC, Hood L, Gibbons SM, Orwoll ES, Price ND
Nat Metab 2021 Feb;3(2):274-286. Epub 2021 Feb 18 doi: 10.1038/s42255-021-00348-0. PMID: 33619379Free PMC Article
Aicua-Rapun I, André P, Novy J
Curr Neuropharmacol 2019;17(5):447-458. doi: 10.2174/1570159X16666180308154646. PMID: 29521237Free PMC Article
Miura S, Fujioka R, Taniwaki T
Kurume Med J 2017 May 8;63(3.4):81-84. Epub 2017 Mar 15 doi: 10.2739/kurumemedj.MS00015. PMID: 28302933
Walker LE, Janigro D, Heinemann U, Riikonen R, Bernard C, Patel M
Epilepsia 2016 Sep;57(9):1354-62. Epub 2016 Jul 4 doi: 10.1111/epi.13460. PMID: 27374986Free PMC Article

Recent systematic reviews

Rosenthal A, Conde G, Greco JF, Gharavi NM
J Cosmet Laser Ther 2024 Jan-Jun;26(1-4):1-16. Epub 2024 Jun 9 doi: 10.1080/14764172.2024.2362126. PMID: 38852607
Martinho DV, Nobari H, Faria A, Field A, Duarte D, Sarmento H
Nutrients 2022 Sep 27;14(19) doi: 10.3390/nu14194002. PMID: 36235655Free PMC Article
Carneiro IBC, Toscano AE, Lacerda DC, da Cunha MSB, de Castro RM, Deiró TCBJ, Medeiros JMB
Eur J Pharmacol 2018 Oct 5;836:129-135. Epub 2018 Aug 8 doi: 10.1016/j.ejphar.2018.08.009. PMID: 30098308
Saunders B, Elliott-Sale K, Artioli GG, Swinton PA, Dolan E, Roschel H, Sale C, Gualano B
Br J Sports Med 2017 Apr;51(8):658-669. Epub 2016 Oct 18 doi: 10.1136/bjsports-2016-096396. PMID: 27797728
Hase A, Jung SE, aan het Rot M
Pharmacol Biochem Behav 2015 Jun;133:1-6. Epub 2015 Mar 20 doi: 10.1016/j.pbb.2015.03.008. PMID: 25797188

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