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SERAC1-related neurological disorder

MedGen UID:
1052873
Concept ID:
CN377038
Disease or Syndrome
Monarch Initiative: MONDO:0100548

Definition

Any neurological disorder in which the cause of the disease is a mutation in the SERAC1 gene. [from MONDO]

Professional guidelines

PubMed

Donini LM, Busetto L, Bischoff SC, Cederholm T, Ballesteros-Pomar MD, Batsis JA, Bauer JM, Boirie Y, Cruz-Jentoft AJ, Dicker D, Frara S, Frühbeck G, Genton L, Gepner Y, Giustina A, Gonzalez MC, Han HS, Heymsfield SB, Higashiguchi T, Laviano A, Lenzi A, Nyulasi I, Parrinello E, Poggiogalle E, Prado CM, Salvador J, Rolland Y, Santini F, Serlie MJ, Shi H, Sieber CC, Siervo M, Vettor R, Villareal DT, Volkert D, Yu J, Zamboni M, Barazzoni R
Obes Facts 2022;15(3):321-335. Epub 2022 Feb 23 doi: 10.1159/000521241. PMID: 35196654Free PMC Article
Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA; International Tuberous Sclerosis Complex Consensus Group
Pediatr Neurol 2021 Oct;123:50-66. Epub 2021 Jul 24 doi: 10.1016/j.pediatrneurol.2021.07.011. PMID: 34399110
Spasovski G, Vanholder R, Allolio B, Annane D, Ball S, Bichet D, Decaux G, Fenske W, Hoorn EJ, Ichai C, Joannidis M, Soupart A, Zietse R, Haller M, van der Veer S, Van Biesen W, Nagler E; Hyponatraemia Guideline Development Group
Eur J Endocrinol 2014 Mar;170(3):G1-47. Epub 2014 Feb 25 doi: 10.1530/EJE-13-1020. PMID: 24569125

Recent clinical studies

Etiology

Jee HJ, Lee SG, Bormate KJ, Jung YS
Nutrients 2020 Oct 9;12(10) doi: 10.3390/nu12103080. PMID: 33050315Free PMC Article
Nicholson C, Edwards MJ, Carson AJ, Gardiner P, Golder D, Hayward K, Humblestone S, Jinadu H, Lumsden C, MacLean J, Main L, Macgregor L, Nielsen G, Oakley L, Price J, Ranford J, Ranu J, Sum E, Stone J
J Neurol Neurosurg Psychiatry 2020 Oct;91(10):1037-1045. Epub 2020 Jul 30 doi: 10.1136/jnnp-2019-322281. PMID: 32732388
Cryan JF, O'Riordan KJ, Sandhu K, Peterson V, Dinan TG
Lancet Neurol 2020 Feb;19(2):179-194. Epub 2019 Nov 18 doi: 10.1016/S1474-4422(19)30356-4. PMID: 31753762
GBD 2016 Neurology Collaborators
Lancet Neurol 2019 May;18(5):459-480. Epub 2019 Mar 14 doi: 10.1016/S1474-4422(18)30499-X. PMID: 30879893Free PMC Article
Lehn A, Gelauff J, Hoeritzauer I, Ludwig L, McWhirter L, Williams S, Gardiner P, Carson A, Stone J
J Neurol 2016 Mar;263(3):611-20. Epub 2015 Sep 26 doi: 10.1007/s00415-015-7893-2. PMID: 26410744

Diagnosis

McLoughlin C, Hoeritzauer I, Cabreira V, Aybek S, Adams C, Alty J, Ball HA, Baker J, Bullock K, Burness C, Dworetzky BA, Finkelstein S, Garcin B, Gelauff J, Goldstein LH, Jordbru A, Huys AM, Laffan A, Lidstone SC, Linden SC, Ludwig L, Maggio J, Morgante F, Mallam E, Nicholson C, O'Neal M, O'Sullivan S, Pareés I, Petrochilos P, Pick S, Phillips W, Roelofs K, Newby R, Stanton B, Gray C, Joyce EM, Tijssen MA, Chalder T, McCormick M, Gardiner P, Bègue I, Tuttle MC, Williams I, McRae S, Voon V, McWhirter L
J Neurol Neurosurg Psychiatry 2023 Oct;94(10):855-862. Epub 2023 Mar 28 doi: 10.1136/jnnp-2022-330192. PMID: 36977553Free PMC Article
Perjoc RS, Roza E, Vladacenco OA, Teleanu DM, Neacsu R, Teleanu RI
Int J Environ Res Public Health 2023 Jan 8;20(2) doi: 10.3390/ijerph20021099. PMID: 36673871Free PMC Article
Bennett K, Diamond C, Hoeritzauer I, Gardiner P, McWhirter L, Carson A, Stone J
Clin Med (Lond) 2021 Jan;21(1):28-36. doi: 10.7861/clinmed.2020-0987. PMID: 33479065Free PMC Article
Gilmour GS, Nielsen G, Teodoro T, Yogarajah M, Coebergh JA, Dilley MD, Martino D, Edwards MJ
J Neurol 2020 Jul;267(7):2164-2172. Epub 2020 Mar 19 doi: 10.1007/s00415-020-09772-w. PMID: 32193596Free PMC Article
Espay AJ, Aybek S, Carson A, Edwards MJ, Goldstein LH, Hallett M, LaFaver K, LaFrance WC Jr, Lang AE, Nicholson T, Nielsen G, Reuber M, Voon V, Stone J, Morgante F
JAMA Neurol 2018 Sep 1;75(9):1132-1141. doi: 10.1001/jamaneurol.2018.1264. PMID: 29868890Free PMC Article

Therapy

Molero-Mateo P, Molina-Rueda F
Neurologia (Engl Ed) 2024 Jul-Aug;39(6):505-514. Epub 2023 Apr 27 doi: 10.1016/j.nrleng.2022.01.008. PMID: 37116691
Zhang MM, Bahal R, Rasmussen TP, Manautou JE, Zhong XB
Biochem Pharmacol 2021 Jul;189:114432. Epub 2021 Jan 26 doi: 10.1016/j.bcp.2021.114432. PMID: 33513339Free PMC Article
Alessandrini M, Preynat-Seauve O, De Bruin K, Pepper MS
S Afr Med J 2019 Sep 10;109(8b):70-77. doi: 10.7196/SAMJ.2019.v109i8b.14009. PMID: 31662153
Lee DJ, Lozano CS, Dallapiazza RF, Lozano AM
J Neurosurg 2019 Aug 1;131(2):333-342. doi: 10.3171/2019.4.JNS181761. PMID: 31370011
Deepmala, Slattery J, Kumar N, Delhey L, Berk M, Dean O, Spielholz C, Frye R
Neurosci Biobehav Rev 2015 Aug;55:294-321. Epub 2015 May 6 doi: 10.1016/j.neubiorev.2015.04.015. PMID: 25957927

Prognosis

McLoughlin C, Hoeritzauer I, Cabreira V, Aybek S, Adams C, Alty J, Ball HA, Baker J, Bullock K, Burness C, Dworetzky BA, Finkelstein S, Garcin B, Gelauff J, Goldstein LH, Jordbru A, Huys AM, Laffan A, Lidstone SC, Linden SC, Ludwig L, Maggio J, Morgante F, Mallam E, Nicholson C, O'Neal M, O'Sullivan S, Pareés I, Petrochilos P, Pick S, Phillips W, Roelofs K, Newby R, Stanton B, Gray C, Joyce EM, Tijssen MA, Chalder T, McCormick M, Gardiner P, Bègue I, Tuttle MC, Williams I, McRae S, Voon V, McWhirter L
J Neurol Neurosurg Psychiatry 2023 Oct;94(10):855-862. Epub 2023 Mar 28 doi: 10.1136/jnnp-2022-330192. PMID: 36977553Free PMC Article
Perjoc RS, Roza E, Vladacenco OA, Teleanu DM, Neacsu R, Teleanu RI
Int J Environ Res Public Health 2023 Jan 8;20(2) doi: 10.3390/ijerph20021099. PMID: 36673871Free PMC Article
Nicloux M, Peterman L, Parodi M, Magny JF
Arch Pediatr 2020 Apr;27(3):160-165. Epub 2020 Feb 29 doi: 10.1016/j.arcped.2020.01.006. PMID: 32127242
GBD 2016 Neurology Collaborators
Lancet Neurol 2019 May;18(5):459-480. Epub 2019 Mar 14 doi: 10.1016/S1474-4422(18)30499-X. PMID: 30879893Free PMC Article
Hermans G, Van den Berghe G
Crit Care 2015 Aug 5;19(1):274. doi: 10.1186/s13054-015-0993-7. PMID: 26242743Free PMC Article

Clinical prediction guides

Mavroudis I, Kazis D, Kamal FZ, Gurzu IL, Ciobica A, Pădurariu M, Novac B, Iordache A
Int J Mol Sci 2024 Apr 18;25(8) doi: 10.3390/ijms25084470. PMID: 38674056Free PMC Article
Seners P, Ben Hassen W, Lapergue B, Arquizan C, Heldner MR, Henon H, Perrin C, Strambo D, Cottier JP, Sablot D, Girard Buttaz I, Tamazyan R, Preterre C, Agius P, Laksiri N, Mechtouff L, Béjot Y, Duong DL, Mounier-Vehier F, Mione G, Rosso C, Lucas L, Papassin J, Aignatoaie A, Triquenot A, Carrera E, Niclot P, Obadia A, Lyoubi A, Garnier P, Crainic N, Wolff V, Tracol C, Philippeau F, Lamy C, Soize S, Baron JC, Turc G; MINOR-STROKE Collaborators
JAMA Neurol 2021 Mar 1;78(3):321-328. doi: 10.1001/jamaneurol.2020.4557. PMID: 33427887Free PMC Article
Nicloux M, Peterman L, Parodi M, Magny JF
Arch Pediatr 2020 Apr;27(3):160-165. Epub 2020 Feb 29 doi: 10.1016/j.arcped.2020.01.006. PMID: 32127242
Seretny M, Currie GL, Sena ES, Ramnarine S, Grant R, MacLeod MR, Colvin LA, Fallon M
Pain 2014 Dec;155(12):2461-2470. Epub 2014 Sep 23 doi: 10.1016/j.pain.2014.09.020. PMID: 25261162
Rothwell PM
Pract Neurol 2008 Aug;8(4):242-53. doi: 10.1136/jnnp.2008.153619. PMID: 18644911

Recent systematic reviews

Liampas A, Parperis K, Erotocritou MF, Nteveros A, Papadopoulou M, Moschovos C, Akil M, Coaccioli S, Hadjigeorgiou GM, Hadjivassiliou M, Zis P
Eur J Neurol 2023 Jan;30(1):255-265. Epub 2022 Sep 23 doi: 10.1111/ene.15555. PMID: 36086910Free PMC Article
Wen J, Chen X, Yang Y, Liu J, Li E, Liu J, Zhou Z, Wu W, He K
Am J Chin Med 2021;49(1):1-23. Epub 2020 Dec 26 doi: 10.1142/S0192415X21500014. PMID: 33371816
Cohen EE, LaMonte SJ, Erb NL, Beckman KL, Sadeghi N, Hutcheson KA, Stubblefield MD, Abbott DM, Fisher PS, Stein KD, Lyman GH, Pratt-Chapman ML
CA Cancer J Clin 2016 May;66(3):203-39. Epub 2016 Mar 22 doi: 10.3322/caac.21343. PMID: 27002678
Deepmala, Slattery J, Kumar N, Delhey L, Berk M, Dean O, Spielholz C, Frye R
Neurosci Biobehav Rev 2015 Aug;55:294-321. Epub 2015 May 6 doi: 10.1016/j.neubiorev.2015.04.015. PMID: 25957927
Seretny M, Currie GL, Sena ES, Ramnarine S, Grant R, MacLeod MR, Colvin LA, Fallon M
Pain 2014 Dec;155(12):2461-2470. Epub 2014 Sep 23 doi: 10.1016/j.pain.2014.09.020. PMID: 25261162

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