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Lysosomal disease with epilepsy

MedGen UID:
1842692
Concept ID:
C5680898
Disease or Syndrome
Orphanet: ORPHA225681

Professional guidelines

PubMed

Augustine EF, Adams HR, de Los Reyes E, Drago K, Frazier M, Guelbert N, Laine M, Levin T, Mink JW, Nickel M, Peifer D, Schulz A, Simonati A, Topcu M, Turunen JA, Williams R, Wirrell EC, King S
Pediatr Neurol 2021 Jul;120:38-51. Epub 2021 Apr 9 doi: 10.1016/j.pediatrneurol.2021.04.002. PMID: 34000449
Mole SE, Schulz A, Badoe E, Berkovic SF, de Los Reyes EC, Dulz S, Gissen P, Guelbert N, Lourenco CM, Mason HL, Mink JW, Murphy N, Nickel M, Olaya JE, Scarpa M, Scheffer IE, Simonati A, Specchio N, Von Löbbecke I, Wang RY, Williams RE
Orphanet J Rare Dis 2021 Apr 21;16(1):185. doi: 10.1186/s13023-021-01813-5. PMID: 33882967Free PMC Article
Kohlschütter A, Schulz A, Bartsch U, Storch S
CNS Drugs 2019 Apr;33(4):315-325. doi: 10.1007/s40263-019-00620-8. PMID: 30877620Free PMC Article

Recent clinical studies

Etiology

Specchio N, Ferretti A, Trivisano M, Pietrafusa N, Pepi C, Calabrese C, Livadiotti S, Simonetti A, Rossi P, Curatolo P, Vigevano F
Drugs 2021 Jan;81(1):101-123. doi: 10.1007/s40265-020-01440-7. PMID: 33242182
Kauss V, Dambrova M, Medina DL
Biochim Biophys Acta Mol Basis Dis 2020 Sep 1;1866(9):165553. Epub 2019 Sep 12 doi: 10.1016/j.bbadis.2019.165553. PMID: 31521819
Nestrasil I, Vedolin L
Mol Genet Metab 2017 Dec;122S:17-24. Epub 2017 Sep 15 doi: 10.1016/j.ymgme.2017.09.006. PMID: 29111092
Minassian BA
Prog Brain Res 2014;213:113-22. doi: 10.1016/B978-0-444-63326-2.00006-5. PMID: 25194486
Girard JM, Turnbull J, Ramachandran N, Minassian BA
Handb Clin Neurol 2013;113:1731-6. doi: 10.1016/B978-0-444-59565-2.00043-5. PMID: 23622396

Diagnosis

Di Lazzaro G, Magrinelli F, Estevez-Fraga C, Valente EM, Pisani A, Bhatia KP
Mov Disord 2021 Jul;36(7):1511-1525. Epub 2021 May 7 doi: 10.1002/mds.28565. PMID: 33960519
Specchio N, Ferretti A, Trivisano M, Pietrafusa N, Pepi C, Calabrese C, Livadiotti S, Simonetti A, Rossi P, Curatolo P, Vigevano F
Drugs 2021 Jan;81(1):101-123. doi: 10.1007/s40265-020-01440-7. PMID: 33242182
Inuzuka LM, Macedo-Souza LI, Della-Rippa B, Monteiro FP, Delgado DS, Godoy LF, Ramos L, de Athayde Costa LS, Garzon E, Kok F
Epileptic Disord 2020 Jun 1;22(3):317-322. doi: 10.1684/epd.2020.1166. PMID: 32597767
Eghbali A, Hassan S, Seehra G, FitzGibbon E, Sidransky E
Mol Genet Metab 2019 May;127(1):23-27. Epub 2019 Feb 15 doi: 10.1016/j.ymgme.2019.02.002. PMID: 31047801
Girard JM, Turnbull J, Ramachandran N, Minassian BA
Handb Clin Neurol 2013;113:1731-6. doi: 10.1016/B978-0-444-59565-2.00043-5. PMID: 23622396

Therapy

Kauss V, Dambrova M, Medina DL
Biochim Biophys Acta Mol Basis Dis 2020 Sep 1;1866(9):165553. Epub 2019 Sep 12 doi: 10.1016/j.bbadis.2019.165553. PMID: 31521819
Kohlschütter A, Schulz A, Bartsch U, Storch S
CNS Drugs 2019 Apr;33(4):315-325. doi: 10.1007/s40263-019-00620-8. PMID: 30877620Free PMC Article
Scarpa M, Lourenço CM, Amartino H
Mol Genet Metab 2017 Dec;122S:55-61. Epub 2017 Oct 16 doi: 10.1016/j.ymgme.2017.10.006. PMID: 29170080
Nestrasil I, Vedolin L
Mol Genet Metab 2017 Dec;122S:17-24. Epub 2017 Sep 15 doi: 10.1016/j.ymgme.2017.09.006. PMID: 29111092
Kohlschütter A, Schulz A
Pediatr Endocrinol Rev 2016 Jun;13 Suppl 1:682-8. PMID: 27491216

Prognosis

Galosi S, Edani BH, Martinelli S, Hansikova H, Eklund EA, Caputi C, Masuelli L, Corsten-Janssen N, Srour M, Oegema R, Bosch DGM, Ellis CA, Amlie-Wolf L, Accogli A, Atallah I, Averdunk L, Barañano KW, Bei R, Bagnasco I, Brusco A, Demarest S, Alaix AS, Di Bonaventura C, Distelmaier F, Elmslie F, Gan-Or Z, Good JM, Gripp K, Kamsteeg EJ, Macnamara E, Marcelis C, Mercier N, Peeden J, Pizzi S, Pannone L, Shinawi M, Toro C, Verbeek NE, Venkateswaran S, Wheeler PG, Zdrazilova L, Zhang R, Zorzi G, Guerrini R, Sessa WC, Lefeber DJ, Tartaglia M, Hamdan FF, Grabińska KA, Leuzzi V
Brain 2022 Mar 29;145(1):208-223. doi: 10.1093/brain/awab299. PMID: 34382076Free PMC Article
Augustine EF, Adams HR, de Los Reyes E, Drago K, Frazier M, Guelbert N, Laine M, Levin T, Mink JW, Nickel M, Peifer D, Schulz A, Simonati A, Topcu M, Turunen JA, Williams R, Wirrell EC, King S
Pediatr Neurol 2021 Jul;120:38-51. Epub 2021 Apr 9 doi: 10.1016/j.pediatrneurol.2021.04.002. PMID: 34000449
Dibbens L, Schwake M, Saftig P, Rubboli G
Epileptic Disord 2016 Sep 1;18(S2):63-72. doi: 10.1684/epd.2016.0843. PMID: 27582254
Ebrahimi-Fakhari D, Wahlster L, Hoffmann GF, Kölker S
Pediatr Res 2014 Jan;75(1-2):217-26. Epub 2013 Oct 28 doi: 10.1038/pr.2013.185. PMID: 24165736
Goebel HH, Müller HD
Ultrastruct Pathol 2013 Feb;37(1):19-22. doi: 10.3109/01913123.2012.670060. PMID: 23383614

Clinical prediction guides

Guerrini R, Mei D, Kerti-Szigeti K, Pepe S, Koenig MK, Von Allmen G, Cho MT, McDonald K, Baker J, Bhambhani V, Powis Z, Rodan L, Nabbout R, Barcia G, Rosenfeld JA, Bacino CA, Mignot C, Power LH, Harris CJ, Marjanovic D, Møller RS, Hammer TB; DDD Study, Keski Filppula R, Vieira P, Hildebrandt C, Sacharow S; Undiagnosed Diseases Network, Maragliano L, Benfenati F, Lachlan K, Benneche A, Petit F, de Sainte Agathe JM, Hallinan B, Si Y, Wentzensen IM, Zou F, Narayanan V, Matsumoto N, Boncristiano A, la Marca G, Kato M, Anderson K, Barba C, Sturiale L, Garozzo D, Bei R; ATP6V1A collaborators, Masuelli L, Conti V, Novarino G, Fassio A
Brain 2022 Aug 27;145(8):2687-2703. doi: 10.1093/brain/awac145. PMID: 35675510Free PMC Article
Mole SE, Schulz A, Badoe E, Berkovic SF, de Los Reyes EC, Dulz S, Gissen P, Guelbert N, Lourenco CM, Mason HL, Mink JW, Murphy N, Nickel M, Olaya JE, Scarpa M, Scheffer IE, Simonati A, Specchio N, Von Löbbecke I, Wang RY, Williams RE
Orphanet J Rare Dis 2021 Apr 21;16(1):185. doi: 10.1186/s13023-021-01813-5. PMID: 33882967Free PMC Article
Kim A, Grover A, Hammon K, de Hart G, Slasor P, Cherukuri A, Ajayi T, Jacoby D, Schulz A, Specchio N, de Los Reyes E, Gissen P, Henshaw JW
Clin Transl Sci 2021 Mar;14(2):635-644. Epub 2020 Nov 30 doi: 10.1111/cts.12925. PMID: 33202105Free PMC Article
Inuzuka LM, Macedo-Souza LI, Della-Rippa B, Monteiro FP, Delgado DS, Godoy LF, Ramos L, de Athayde Costa LS, Garzon E, Kok F
Epileptic Disord 2020 Jun 1;22(3):317-322. doi: 10.1684/epd.2020.1166. PMID: 32597767
Goebel HH, Müller HD
Ultrastruct Pathol 2013 Feb;37(1):19-22. doi: 10.3109/01913123.2012.670060. PMID: 23383614

Recent systematic reviews

Chang SC, Eichinger CS, Field P
Eur J Med Res 2024 Mar 18;29(1):181. doi: 10.1186/s40001-024-01771-1. PMID: 38494502Free PMC Article
Mole SE, Schulz A, Badoe E, Berkovic SF, de Los Reyes EC, Dulz S, Gissen P, Guelbert N, Lourenco CM, Mason HL, Mink JW, Murphy N, Nickel M, Olaya JE, Scarpa M, Scheffer IE, Simonati A, Specchio N, Von Löbbecke I, Wang RY, Williams RE
Orphanet J Rare Dis 2021 Apr 21;16(1):185. doi: 10.1186/s13023-021-01813-5. PMID: 33882967Free PMC Article
Singh S, Singh TG, Rehni AK
CNS Neurol Disord Drug Targets 2020;19(10):750-779. doi: 10.2174/1871527319666200910153827. PMID: 32914725

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