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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
Erick M, Cox JT, Mogensen KM
Obstet Gynecol 2018 May;131(5):935. doi: 10.1097/AOG.0000000000002604. PMID: 29683896

Recent clinical studies

Etiology

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
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
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS
Brain 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054. PMID: 28379373
Lang UE, Borgwardt S
Cell Physiol Biochem 2013;31(6):761-77. Epub 2013 May 31 doi: 10.1159/000350094. PMID: 23735822

Diagnosis

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
Olson HE, Demarest ST, Pestana-Knight EM, Swanson LC, Iqbal S, Lal D, Leonard H, Cross JH, Devinsky O, Benke TA
Pediatr Neurol 2019 Aug;97:18-25. Epub 2019 Feb 23 doi: 10.1016/j.pediatrneurol.2019.02.015. PMID: 30928302Free PMC Article
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

Therapy

Ravizza T, Scheper M, Di Sapia R, Gorter J, Aronica E, Vezzani A
Nat Rev Neurosci 2024 May;25(5):334-350. Epub 2024 Mar 26 doi: 10.1038/s41583-024-00805-1. PMID: 38531962
Sills GJ, Rogawski MA
Neuropharmacology 2020 May 15;168:107966. Epub 2020 Jan 14 doi: 10.1016/j.neuropharm.2020.107966. PMID: 32120063
Hon KL, Leung AKC, Torres AR
Recent Pat Inflamm Allergy Drug Discov 2018;12(2):128-135. doi: 10.2174/1872213X12666180508122450. PMID: 29745347
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS
Brain 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054. PMID: 28379373
Ben-Menachem E
Epilepsia 2004;45 Suppl 6:13-8. doi: 10.1111/j.0013-9580.2004.455003.x. PMID: 15315511

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
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS
Brain 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054. PMID: 28379373
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
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
Wang TJ, Larson MG, Vasan RS, Cheng S, Rhee EP, McCabe E, Lewis GD, Fox CS, Jacques PF, Fernandez C, O'Donnell CJ, Carr SA, Mootha VK, Florez JC, Souza A, Melander O, Clish CB, Gerszten RE
Nat Med 2011 Apr;17(4):448-53. Epub 2011 Mar 20 doi: 10.1038/nm.2307. PMID: 21423183Free PMC Article

Recent systematic reviews

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
Morze J, Wittenbecher C, Schwingshackl L, Danielewicz A, Rynkiewicz A, Hu FB, Guasch-Ferré M
Diabetes Care 2022 Apr 1;45(4):1013-1024. doi: 10.2337/dc21-1705. PMID: 35349649Free PMC Article
Gielen E, Beckwée D, Delaere A, De Breucker S, Vandewoude M, Bautmans I; Sarcopenia Guidelines Development Group of the Belgian Society of Gerontology and Geriatrics (BSGG)
Nutr Rev 2021 Jan 9;79(2):121-147. doi: 10.1093/nutrit/nuaa011. PMID: 32483625
Badal VD, Vaccariello ED, Murray ER, Yu KE, Knight R, Jeste DV, Nguyen TT
Nutrients 2020 Dec 7;12(12) doi: 10.3390/nu12123759. PMID: 33297486Free PMC Article
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

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