Etiology
Aronica E,
Specchio N,
Luinenburg MJ,
Curatolo P
Brain
2023 Jul 3;146(7):2694-2710.
doi: 10.1093/brain/awad048.
PMID: 36806388Free PMC Article
Holeček M
Physiol Res
2022 Mar 25;71(1):29-45.
Epub 2022 Jan 19
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PMID: 35043647Free PMC Article
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
Doig AJ
FEBS J
2017 May;284(9):1296-1305.
Epub 2017 Jan 13
doi: 10.1111/febs.13982.
PMID: 27926995
Lang UE,
Borgwardt S
Cell Physiol Biochem
2013;31(6):761-77.
Epub 2013 May 31
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PMID: 23735822
Diagnosis
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
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.
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PMID: 29745347
Naviaux RK
Mitochondrion
2014 May;16:7-17.
Epub 2013 Aug 24
doi: 10.1016/j.mito.2013.08.006.
PMID: 23981537
Lang UE,
Borgwardt S
Cell Physiol Biochem
2013;31(6):761-77.
Epub 2013 May 31
doi: 10.1159/000350094.
PMID: 23735822
Therapy
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
Toledano M,
Pittock SJ
Semin Neurol
2015 Jun;35(3):245-58.
Epub 2015 Jun 10
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PMID: 26060904
Irani SR,
Bien CG,
Lang B
Curr Opin Neurol
2011 Apr;24(2):146-53.
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PMID: 21358545
Prognosis
Aronica E,
Specchio N,
Luinenburg MJ,
Curatolo P
Brain
2023 Jul 3;146(7):2694-2710.
doi: 10.1093/brain/awad048.
PMID: 36806388Free 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
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
Clinical prediction guides
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
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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
Lang UE,
Borgwardt S
Cell Physiol Biochem
2013;31(6):761-77.
Epub 2013 May 31
doi: 10.1159/000350094.
PMID: 23735822
Wang TJ,
Larson MG,
Vasan RS,
Cheng S,
Rhee EP,
McCabe E,
Lewis GD,
Fox CS,
Jacques PF,
Fernandez C,
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Carr SA,
Mootha VK,
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Nat Med
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PMID: 21423183Free PMC Article