Etiology
Höybye C,
Tauber M
J Clin Endocrinol Metab
2022 May 17;107(6):1698-1705.
doi: 10.1210/clinem/dgac082.
PMID: 35150573Free PMC Article
Duis J,
Nespeca M,
Summers J,
Bird L,
Bindels-de Heus KGCB,
Valstar MJ,
de Wit MY,
Navis C,
Ten Hooven-Radstaake M,
van Iperen-Kolk BM,
Ernst S,
Dendrinos M,
Katz T,
Diaz-Medina G,
Katyayan A,
Nangia S,
Thibert R,
Glaze D,
Keary C,
Pelc K,
Simon N,
Sadhwani A,
Heussler H,
Wheeler A,
Woeber C,
DeRamus M,
Thomas A,
Kertcher E,
DeValk L,
Kalemeris K,
Arps K,
Baym C,
Harris N,
Gorham JP,
Bohnsack BL,
Chambers RC,
Harris S,
Chambers HG,
Okoniewski K,
Jalazo ER,
Berent A,
Bacino CA,
Williams C,
Anderson A
Mol Genet Genomic Med
2022 Mar;10(3):e1843.
Epub 2022 Feb 11
doi: 10.1002/mgg3.1843.
PMID: 35150089Free PMC Article
Valentín-Gudiol M,
Mattern-Baxter K,
Girabent-Farrés M,
Bagur-Calafat C,
Hadders-Algra M,
Angulo-Barroso RM
Cochrane Database Syst Rev
2017 Jul 29;7(7):CD009242.
doi: 10.1002/14651858.CD009242.pub3.
PMID: 28755534Free PMC Article
Wakeling EL,
Brioude F,
Lokulo-Sodipe O,
O'Connell SM,
Salem J,
Bliek J,
Canton AP,
Chrzanowska KH,
Davies JH,
Dias RP,
Dubern B,
Elbracht M,
Giabicani E,
Grimberg A,
Grønskov K,
Hokken-Koelega AC,
Jorge AA,
Kagami M,
Linglart A,
Maghnie M,
Mohnike K,
Monk D,
Moore GE,
Murray PG,
Ogata T,
Petit IO,
Russo S,
Said E,
Toumba M,
Tümer Z,
Binder G,
Eggermann T,
Harbison MD,
Temple IK,
Mackay DJ,
Netchine I
Nat Rev Endocrinol
2017 Feb;13(2):105-124.
Epub 2016 Sep 2
doi: 10.1038/nrendo.2016.138.
PMID: 27585961
Fink JK
Acta Neuropathol
2013 Sep;126(3):307-28.
Epub 2013 Jul 30
doi: 10.1007/s00401-013-1115-8.
PMID: 23897027Free PMC Article
Diagnosis
Saffari A,
Kellner M,
Jordan C,
Rosengarten H,
Mo A,
Zhang B,
Strelko O,
Neuser S,
Davis MY,
Yoshikura N,
Futamura N,
Takeuchi T,
Nabatame S,
Ishiura H,
Tsuji S,
Aldeen HS,
Cali E,
Rocca C,
Houlden H,
Efthymiou S,
Assmann B,
Yoon G,
Trombetta BA,
Kivisäkk P,
Eichler F,
Nan H,
Takiyama Y,
Tessa A,
Santorelli FM,
Sahin M,
Blackstone C,
Yang E,
Schüle R,
Ebrahimi-Fakhari D
Brain
2023 May 2;146(5):2003-2015.
doi: 10.1093/brain/awac391.
PMID: 36315648Free PMC Article
Duis J,
Nespeca M,
Summers J,
Bird L,
Bindels-de Heus KGCB,
Valstar MJ,
de Wit MY,
Navis C,
Ten Hooven-Radstaake M,
van Iperen-Kolk BM,
Ernst S,
Dendrinos M,
Katz T,
Diaz-Medina G,
Katyayan A,
Nangia S,
Thibert R,
Glaze D,
Keary C,
Pelc K,
Simon N,
Sadhwani A,
Heussler H,
Wheeler A,
Woeber C,
DeRamus M,
Thomas A,
Kertcher E,
DeValk L,
Kalemeris K,
Arps K,
Baym C,
Harris N,
Gorham JP,
Bohnsack BL,
Chambers RC,
Harris S,
Chambers HG,
Okoniewski K,
Jalazo ER,
Berent A,
Bacino CA,
Williams C,
Anderson A
Mol Genet Genomic Med
2022 Mar;10(3):e1843.
Epub 2022 Feb 11
doi: 10.1002/mgg3.1843.
PMID: 35150089Free PMC Article
Wakeling EL,
Brioude F,
Lokulo-Sodipe O,
O'Connell SM,
Salem J,
Bliek J,
Canton AP,
Chrzanowska KH,
Davies JH,
Dias RP,
Dubern B,
Elbracht M,
Giabicani E,
Grimberg A,
Grønskov K,
Hokken-Koelega AC,
Jorge AA,
Kagami M,
Linglart A,
Maghnie M,
Mohnike K,
Monk D,
Moore GE,
Murray PG,
Ogata T,
Petit IO,
Russo S,
Said E,
Toumba M,
Tümer Z,
Binder G,
Eggermann T,
Harbison MD,
Temple IK,
Mackay DJ,
Netchine I
Nat Rev Endocrinol
2017 Feb;13(2):105-124.
Epub 2016 Sep 2
doi: 10.1038/nrendo.2016.138.
PMID: 27585961
Ismail FY,
Fatemi A,
Johnston MV
Eur J Paediatr Neurol
2017 Jan;21(1):23-48.
Epub 2016 Aug 9
doi: 10.1016/j.ejpn.2016.07.007.
PMID: 27567276
Romero NB,
Clarke NF
Handb Clin Neurol
2013;113:1321-36.
doi: 10.1016/B978-0-444-59565-2.00004-6.
PMID: 23622357
Therapy
Aziz MNM,
Kumar J,
Muhammad Nawawi KN,
Raja Ali RA,
Mokhtar NM
Nutrients
2021 Aug 31;13(9)
doi: 10.3390/nu13093061.
PMID: 34578939Free PMC Article
Camilleri M
JAMA
2021 Mar 2;325(9):865-877.
doi: 10.1001/jama.2020.22532.
PMID: 33651094
Dauvilliers Y,
Schenck CH,
Postuma RB,
Iranzo A,
Luppi PH,
Plazzi G,
Montplaisir J,
Boeve B
Nat Rev Dis Primers
2018 Aug 30;4(1):19.
doi: 10.1038/s41572-018-0016-5.
PMID: 30166532
Cacabelos R
Int J Mol Sci
2017 Mar 4;18(3)
doi: 10.3390/ijms18030551.
PMID: 28273839Free PMC Article
Wakeling EL,
Brioude F,
Lokulo-Sodipe O,
O'Connell SM,
Salem J,
Bliek J,
Canton AP,
Chrzanowska KH,
Davies JH,
Dias RP,
Dubern B,
Elbracht M,
Giabicani E,
Grimberg A,
Grønskov K,
Hokken-Koelega AC,
Jorge AA,
Kagami M,
Linglart A,
Maghnie M,
Mohnike K,
Monk D,
Moore GE,
Murray PG,
Ogata T,
Petit IO,
Russo S,
Said E,
Toumba M,
Tümer Z,
Binder G,
Eggermann T,
Harbison MD,
Temple IK,
Mackay DJ,
Netchine I
Nat Rev Endocrinol
2017 Feb;13(2):105-124.
Epub 2016 Sep 2
doi: 10.1038/nrendo.2016.138.
PMID: 27585961
Prognosis
Wang JX,
Fidimanantsoa OL,
Ma LX
Front Public Health
2023;11:1155372.
Epub 2023 Apr 6
doi: 10.3389/fpubh.2023.1155372.
PMID: 37089473Free PMC Article
Höybye C,
Tauber M
J Clin Endocrinol Metab
2022 May 17;107(6):1698-1705.
doi: 10.1210/clinem/dgac082.
PMID: 35150573Free PMC Article
Miller JL,
Groves ML,
Baschat AA
Minerva Ginecol
2019 Apr;71(2):163-170.
Epub 2018 Nov 27
doi: 10.23736/S0026-4784.18.04355-1.
PMID: 30486637
Hentati F,
Hentati E,
Amouri R
Handb Clin Neurol
2013;115:933-8.
doi: 10.1016/B978-0-444-52902-2.00052-7.
PMID: 23931822
Leocani L,
Comi G
Neurol Sci
2008 Sep;29 Suppl 2:S218-21.
doi: 10.1007/s10072-008-0942-1.
PMID: 18690497
Clinical prediction guides
Goyal A,
Fernandes-Torres J,
Flemming KD,
Williams LN,
Daniels DJ
Childs Nerv Syst
2023 Jun;39(6):1545-1554.
Epub 2023 Mar 14
doi: 10.1007/s00381-023-05903-6.
PMID: 36917267
Saffari A,
Kellner M,
Jordan C,
Rosengarten H,
Mo A,
Zhang B,
Strelko O,
Neuser S,
Davis MY,
Yoshikura N,
Futamura N,
Takeuchi T,
Nabatame S,
Ishiura H,
Tsuji S,
Aldeen HS,
Cali E,
Rocca C,
Houlden H,
Efthymiou S,
Assmann B,
Yoon G,
Trombetta BA,
Kivisäkk P,
Eichler F,
Nan H,
Takiyama Y,
Tessa A,
Santorelli FM,
Sahin M,
Blackstone C,
Yang E,
Schüle R,
Ebrahimi-Fakhari D
Brain
2023 May 2;146(5):2003-2015.
doi: 10.1093/brain/awac391.
PMID: 36315648Free PMC Article
Giotakos O
Psychiatriki
2019 Jul-Sep;30(3):245-255.
doi: 10.22365/jpsych.2019.303.245.
PMID: 31685456
Thakkar KN,
Rolfs M
Biol Psychiatry Cogn Neurosci Neuroimaging
2019 Sep;4(9):773-781.
Epub 2019 Apr 2
doi: 10.1016/j.bpsc.2019.03.009.
PMID: 31105039Free PMC Article
Leocani L,
Comi G
Neurol Sci
2008 Sep;29 Suppl 2:S218-21.
doi: 10.1007/s10072-008-0942-1.
PMID: 18690497