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Mitochondrial disease with epilepsy

MedGen UID:
1842470
Concept ID:
C5680897
Disease or Syndrome
Orphanet: ORPHA225700

Professional guidelines

PubMed

Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM
J Inherit Metab Dis 2021 Jan;44(1):178-192. Epub 2020 Dec 1 doi: 10.1002/jimd.12332. PMID: 33200442
Tajbakhsh A, Gheibi Hayat SM, Taghizadeh H, Akbari A, Inabadi M, Savardashtaki A, Johnston TP, Sahebkar A
Expert Rev Anti Infect Ther 2021 Mar;19(3):345-357. Epub 2020 Sep 28 doi: 10.1080/14787210.2020.1822737. PMID: 32921216
El-Hattab AW, Adesina AM, Jones J, Scaglia F
Mol Genet Metab 2015 Sep-Oct;116(1-2):4-12. Epub 2015 Jun 15 doi: 10.1016/j.ymgme.2015.06.004. PMID: 26095523

Recent clinical studies

Etiology

Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ
Am J Hum Genet 2023 Jan 5;110(1):105-119. Epub 2022 Dec 8 doi: 10.1016/j.ajhg.2022.11.015. PMID: 36493768Free PMC Article
Mao XY, Yin XX, Guan QW, Xia QX, Yang N, Zhou HH, Liu ZQ, Jin WL
Pharmacol Ther 2021 Oct;226:107861. Epub 2021 Apr 23 doi: 10.1016/j.pharmthera.2021.107861. PMID: 33901506
Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM
J Inherit Metab Dis 2021 Jan;44(1):178-192. Epub 2020 Dec 1 doi: 10.1002/jimd.12332. PMID: 33200442
Wanleenuwat P, Suntharampillai N, Iwanowski P
Seizure 2020 Oct;81:167-174. Epub 2020 Aug 14 doi: 10.1016/j.seizure.2020.08.012. PMID: 32827980
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048

Diagnosis

Ng YS, McFarland R
Handb Clin Neurol 2023;195:563-585. doi: 10.1016/B978-0-323-98818-6.00025-X. PMID: 37562887
Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM
J Inherit Metab Dis 2021 Jan;44(1):178-192. Epub 2020 Dec 1 doi: 10.1002/jimd.12332. PMID: 33200442
Rahman S, Copeland WC
Nat Rev Neurol 2019 Jan;15(1):40-52. doi: 10.1038/s41582-018-0101-0. PMID: 30451971Free PMC Article
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC
Hum Mutat 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. PMID: 18546365Free PMC Article

Therapy

Pong AW, Ross J, Tyrlikova I, Giermek AJ, Kohli MP, Khan YA, Salgado RD, Klein P
Expert Opin Emerg Drugs 2022 Mar;27(1):75-90. Epub 2022 Apr 1 doi: 10.1080/14728214.2022.2059464. PMID: 35341431
Wanleenuwat P, Suntharampillai N, Iwanowski P
Seizure 2020 Oct;81:167-174. Epub 2020 Aug 14 doi: 10.1016/j.seizure.2020.08.012. PMID: 32827980
El-Hattab AW, Adesina AM, Jones J, Scaglia F
Mol Genet Metab 2015 Sep-Oct;116(1-2):4-12. Epub 2015 Jun 15 doi: 10.1016/j.ymgme.2015.06.004. PMID: 26095523
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
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795

Prognosis

Malhotra S, Miras MCM, Pappolla A, Montalban X, Comabella M
Cells 2023 Jul 22;12(14) doi: 10.3390/cells12141911. PMID: 37508574Free PMC Article
Lopriore P, Gomes F, Montano V, Siciliano G, Mancuso M
Int J Mol Sci 2022 Oct 30;23(21) doi: 10.3390/ijms232113216. PMID: 36362003Free PMC Article
Vasileva Z
Folia Med (Plovdiv) 2021 Dec 31;63(6):827-833. doi: 10.3897/folmed.63.e58637. PMID: 35851222
Tajbakhsh A, Gheibi Hayat SM, Taghizadeh H, Akbari A, Inabadi M, Savardashtaki A, Johnston TP, Sahebkar A
Expert Rev Anti Infect Ther 2021 Mar;19(3):345-357. Epub 2020 Sep 28 doi: 10.1080/14787210.2020.1822737. PMID: 32921216
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795

Clinical prediction guides

Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ
Am J Hum Genet 2023 Jan 5;110(1):105-119. Epub 2022 Dec 8 doi: 10.1016/j.ajhg.2022.11.015. PMID: 36493768Free PMC Article
Zech M, Jech R, Boesch S, Škorvánek M, Weber S, Wagner M, Zhao C, Jochim A, Necpál J, Dincer Y, Vill K, Distelmaier F, Stoklosa M, Krenn M, Grunwald S, Bock-Bierbaum T, Fečíková A, Havránková P, Roth J, Příhodová I, Adamovičová M, Ulmanová O, Bechyně K, Danhofer P, Veselý B, Haň V, Pavelekova P, Gdovinová Z, Mantel T, Meindl T, Sitzberger A, Schröder S, Blaschek A, Roser T, Bonfert MV, Haberlandt E, Plecko B, Leineweber B, Berweck S, Herberhold T, Langguth B, Švantnerová J, Minár M, Ramos-Rivera GA, Wojcik MH, Pajusalu S, Õunap K, Schatz UA, Pölsler L, Milenkovic I, Laccone F, Pilshofer V, Colombo R, Patzer S, Iuso A, Vera J, Troncoso M, Fang F, Prokisch H, Wilbert F, Eckenweiler M, Graf E, Westphal DS, Riedhammer KM, Brunet T, Alhaddad B, Berutti R, Strom TM, Hecht M, Baumann M, Wolf M, Telegrafi A, Person RE, Zamora FM, Henderson LB, Weise D, Musacchio T, Volkmann J, Szuto A, Becker J, Cremer K, Sycha T, Zimprich F, Kraus V, Makowski C, Gonzalez-Alegre P, Bardakjian TM, Ozelius LJ, Vetro A, Guerrini R, Maier E, Borggraefe I, Kuster A, Wortmann SB, Hackenberg A, Steinfeld R, Assmann B, Staufner C, Opladen T, Růžička E, Cohn RD, Dyment D, Chung WK, Engels H, Ceballos-Baumann A, Ploski R, Daumke O, Haslinger B, Mall V, Oexle K, Winkelmann J
Lancet Neurol 2020 Nov;19(11):908-918. doi: 10.1016/S1474-4422(20)30312-4. PMID: 33098801Free PMC Article
El-Hattab AW, Adesina AM, Jones J, Scaglia F
Mol Genet Metab 2015 Sep-Oct;116(1-2):4-12. Epub 2015 Jun 15 doi: 10.1016/j.ymgme.2015.06.004. PMID: 26095523
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC
Hum Mutat 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. PMID: 18546365Free PMC Article

Recent systematic reviews

Hassan A
Tremor Other Hyperkinet Mov (N Y) 2023;13:9. Epub 2023 Mar 28 doi: 10.5334/tohm.747. PMID: 37008993Free PMC Article
Pedersen ZO, Holm-Yildiz S, Dysgaard T
Int J Mol Sci 2022 Sep 13;23(18) doi: 10.3390/ijms231810658. PMID: 36142570Free PMC Article
Zweers H, van Wegberg AMJ, Janssen MCH, Wortmann SB
Orphanet J Rare Dis 2021 Jul 3;16(1):295. doi: 10.1186/s13023-021-01927-w. PMID: 34217336Free PMC Article
Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM
J Inherit Metab Dis 2021 Jan;44(1):178-192. Epub 2020 Dec 1 doi: 10.1002/jimd.12332. PMID: 33200442
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

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