Etiology
Tábara LC,
Al-Salmi F,
Maroofian R,
Al-Futaisi AM,
Al-Murshedi F,
Kennedy J,
Day JO,
Courtin T,
Al-Khayat A,
Galedari H,
Mazaheri N,
Protasoni M,
Johnson M,
Leslie JS,
Salter CG,
Rawlins LE,
Fasham J,
Al-Maawali A,
Voutsina N,
Charles P,
Harrold L,
Keren B,
Kunji ERS,
Vona B,
Jelodar G,
Sedaghat A,
Shariati G,
Houlden H,
Crosby AH,
Prudent J,
Baple EL
Brain
2022 Sep 14;145(9):3095-3107.
doi: 10.1093/brain/awac123.
PMID: 35718349Free PMC Article
Ricciardello A,
Tomaiuolo P,
Persico AM
Am J Med Genet A
2021 Jul;185(7):2211-2233.
Epub 2021 May 5
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Taşkıran EZ,
Karaosmanoğlu B,
Koşukcu C,
Ürel-Demir G,
Akgün-Doğan Ö,
Şimşek-Kiper PÖ,
Alikaşifoğlu M,
Boduroğlu K,
Utine GE
J Intellect Disabil Res
2021 Jun;65(6):577-588.
Epub 2021 Mar 19
doi: 10.1111/jir.12835.
PMID: 33739554
Chrzanowska KH,
Gregorek H,
Dembowska-Bagińska B,
Kalina MA,
Digweed M
Orphanet J Rare Dis
2012 Feb 28;7:13.
doi: 10.1186/1750-1172-7-13.
PMID: 22373003Free PMC Article
Digilio MC,
Dallapiccola B
Orphanet J Rare Dis
2010 Sep 29;5:25.
doi: 10.1186/1750-1172-5-25.
PMID: 20920258Free PMC Article
Diagnosis
Taşkıran EZ,
Karaosmanoğlu B,
Koşukcu C,
Ürel-Demir G,
Akgün-Doğan Ö,
Şimşek-Kiper PÖ,
Alikaşifoğlu M,
Boduroğlu K,
Utine GE
J Intellect Disabil Res
2021 Jun;65(6):577-588.
Epub 2021 Mar 19
doi: 10.1111/jir.12835.
PMID: 33739554
Cho KH,
Shim SH,
Kim M
Clin Genet
2018 Apr;93(4):721-730.
Epub 2017 Sep 17
doi: 10.1111/cge.13058.
PMID: 28543186
Reuter MS,
Tawamie H,
Buchert R,
Hosny Gebril O,
Froukh T,
Thiel C,
Uebe S,
Ekici AB,
Krumbiegel M,
Zweier C,
Hoyer J,
Eberlein K,
Bauer J,
Scheller U,
Strom TM,
Hoffjan S,
Abdelraouf ER,
Meguid NA,
Abboud A,
Al Khateeb MA,
Fakher M,
Hamdan S,
Ismael A,
Muhammad S,
Abdallah E,
Sticht H,
Wieczorek D,
Reis A,
Abou Jamra R
JAMA Psychiatry
2017 Mar 1;74(3):293-299.
doi: 10.1001/jamapsychiatry.2016.3798.
PMID: 28097321
Chrzanowska KH,
Gregorek H,
Dembowska-Bagińska B,
Kalina MA,
Digweed M
Orphanet J Rare Dis
2012 Feb 28;7:13.
doi: 10.1186/1750-1172-7-13.
PMID: 22373003Free PMC Article
Digilio MC,
Dallapiccola B
Orphanet J Rare Dis
2010 Sep 29;5:25.
doi: 10.1186/1750-1172-5-25.
PMID: 20920258Free PMC Article
Therapy
Yunisova G,
Tufekcioglu Z,
Dogu O,
Bilgic B,
Kaleagasi H,
Akca Kalem S,
Lohmann E,
Gurvit HI,
Emre M,
Hanagasi HA
Neurodegener Dis
2019;19(5-6):218-224.
Epub 2020 Apr 29
doi: 10.1159/000506770.
PMID: 32349000
Stelten BML,
Bonnot O,
Huidekoper HH,
van Spronsen FJ,
van Hasselt PM,
Kluijtmans LAJ,
Wevers RA,
Verrips A
J Inherit Metab Dis
2018 Jul;41(4):641-646.
Epub 2017 Sep 11
doi: 10.1007/s10545-017-0086-7.
PMID: 28894950
Diez-Fernandez C,
Häberle J
Expert Opin Ther Targets
2017 Apr;21(4):391-399.
Epub 2017 Feb 20
doi: 10.1080/14728222.2017.1294685.
PMID: 28281899
Matevosyan NR
Arch Gynecol Obstet
2016 Jan;293(1):87-99.
Epub 2015 Jun 11
doi: 10.1007/s00404-015-3770-6.
PMID: 26063342
Simell O,
Perheentupa J,
Rapola J,
Visakorpi JK,
Eskelin LE
Am J Med
1975 Aug;59(2):229-40.
doi: 10.1016/0002-9343(75)90358-7.
PMID: 1155480
Prognosis
Cherian A,
K P D,
Vijayaraghavan A
Curr Opin Neurol
2023 Aug 1;36(4):292-301.
Epub 2023 May 24
doi: 10.1097/WCO.0000000000001167.
PMID: 37366140
Tábara LC,
Al-Salmi F,
Maroofian R,
Al-Futaisi AM,
Al-Murshedi F,
Kennedy J,
Day JO,
Courtin T,
Al-Khayat A,
Galedari H,
Mazaheri N,
Protasoni M,
Johnson M,
Leslie JS,
Salter CG,
Rawlins LE,
Fasham J,
Al-Maawali A,
Voutsina N,
Charles P,
Harrold L,
Keren B,
Kunji ERS,
Vona B,
Jelodar G,
Sedaghat A,
Shariati G,
Houlden H,
Crosby AH,
Prudent J,
Baple EL
Brain
2022 Sep 14;145(9):3095-3107.
doi: 10.1093/brain/awac123.
PMID: 35718349Free PMC Article
Ricciardello A,
Tomaiuolo P,
Persico AM
Am J Med Genet A
2021 Jul;185(7):2211-2233.
Epub 2021 May 5
doi: 10.1002/ajmg.a.62222.
PMID: 33949759Free PMC Article
Chrzanowska KH,
Gregorek H,
Dembowska-Bagińska B,
Kalina MA,
Digweed M
Orphanet J Rare Dis
2012 Feb 28;7:13.
doi: 10.1186/1750-1172-7-13.
PMID: 22373003Free PMC Article
Digilio MC,
Dallapiccola B
Orphanet J Rare Dis
2010 Sep 29;5:25.
doi: 10.1186/1750-1172-5-25.
PMID: 20920258Free PMC Article
Clinical prediction guides
Cherian A,
K P D,
Vijayaraghavan A
Curr Opin Neurol
2023 Aug 1;36(4):292-301.
Epub 2023 May 24
doi: 10.1097/WCO.0000000000001167.
PMID: 37366140
Tábara LC,
Al-Salmi F,
Maroofian R,
Al-Futaisi AM,
Al-Murshedi F,
Kennedy J,
Day JO,
Courtin T,
Al-Khayat A,
Galedari H,
Mazaheri N,
Protasoni M,
Johnson M,
Leslie JS,
Salter CG,
Rawlins LE,
Fasham J,
Al-Maawali A,
Voutsina N,
Charles P,
Harrold L,
Keren B,
Kunji ERS,
Vona B,
Jelodar G,
Sedaghat A,
Shariati G,
Houlden H,
Crosby AH,
Prudent J,
Baple EL
Brain
2022 Sep 14;145(9):3095-3107.
doi: 10.1093/brain/awac123.
PMID: 35718349Free PMC Article
Bayat A,
de Valles-Ibáñez G,
Pendziwiat M,
Knaus A,
Alt K,
Biamino E,
Bley A,
Calvert S,
Carney P,
Caro-Llopis A,
Ceulemans B,
Cousin J,
Davis S,
des Portes V,
Edery P,
England E,
Ferreira C,
Freeman J,
Gener B,
Gorce M,
Heron D,
Hildebrand MS,
Jezela-Stanek A,
Jouk PS,
Keren B,
Kloth K,
Kluger G,
Kuhn M,
Lemke JR,
Li H,
Martinez F,
Maxton C,
Mefford HC,
Merla G,
Mierzewska H,
Muir A,
Monfort S,
Nicolai J,
Norman J,
O'Grady G,
Oleksy B,
Orellana C,
Orec LE,
Peinhardt C,
Pronicka E,
Rosello M,
Santos-Simarro F,
Schwaibold EMC,
Stegmann APA,
Stumpel CT,
Szczepanik E,
Terczyńska I,
Thevenon J,
Tzschach A,
Van Bogaert P,
Vittorini R,
Walsh S,
Weckhuysen S,
Weissman B,
Wolfe L,
Reymond A,
De Nittis P,
Poduri A,
Olson H,
Striano P,
Lesca G,
Scheffer IE,
Møller RS,
Sadleir LG
Epilepsia
2022 Apr;63(4):974-991.
Epub 2022 Feb 18
doi: 10.1111/epi.17173.
PMID: 35179230
Ricciardello A,
Tomaiuolo P,
Persico AM
Am J Med Genet A
2021 Jul;185(7):2211-2233.
Epub 2021 May 5
doi: 10.1002/ajmg.a.62222.
PMID: 33949759Free PMC Article
Richard EM,
Polla DL,
Assir MZ,
Contreras M,
Shahzad M,
Khan AA,
Razzaq A,
Akram J,
Tarar MN,
Blanpied TA,
Ahmed ZM,
Abou Jamra R,
Wieczorek D,
van Bokhoven H,
Riazuddin S,
Riazuddin S
Am J Hum Genet
2019 Oct 3;105(4):869-878.
Epub 2019 Sep 26
doi: 10.1016/j.ajhg.2019.09.007.
PMID: 31564433Free PMC Article