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
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
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
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
Goebel HH,
Müller HD
Ultrastruct Pathol
2013 Feb;37(1):19-22.
doi: 10.3109/01913123.2012.670060.
PMID: 23383614
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