Etiology
Sampagar A,
Gosavi M,
Kedar P,
Patel T,
Dongerdiye R,
Mahantashetti N
Int J Hematol
2022 Feb;115(2):255-262.
Epub 2021 Oct 27
doi: 10.1007/s12185-021-03240-5.
PMID: 34704234
Kolkıran A,
Karaosmanoğlu B,
Taşkıran ZE,
Şimşek-Kiper PÖ,
Utine GE
Turk J Pediatr
2021;63(6):1091-1096.
doi: 10.24953/turkjped.2021.06.019.
PMID: 35023661
Innes AM,
McInnes BL,
Dyment DA
Am J Med Genet C Semin Med Genet
2018 Dec;178(4):387-397.
doi: 10.1002/ajmg.c.31661.
PMID: 30580484
Harris ZL,
Gitlin JD
Am J Clin Nutr
1996 May;63(5):836S-41S.
doi: 10.1093/ajcn/63.5.836.
PMID: 8615371
Mäenpää J
Arch Dis Child
1972 Dec;47(256):914-23.
doi: 10.1136/adc.47.256.914.
PMID: 4119068Free PMC Article
Diagnosis
Maroofian R,
Kaiyrzhanov R,
Cali E,
Zamani M,
Zaki MS,
Ferla M,
Tortora D,
Sadeghian S,
Saadi SM,
Abdullah U,
Karimiani EG,
Efthymiou S,
Yeşil G,
Alavi S,
Al Shamsi AM,
Tajsharghi H,
Abdel-Hamid MS,
Saadi NW,
Al Mutairi F,
Alabdi L,
Beetz C,
Ali Z,
Toosi MB,
Rudnik-Schöneborn S,
Babaei M,
Isohanni P,
Muhammad J,
Khan S,
Al Shalan M,
Hickey SE,
Marom D,
Elhanan E,
Kurian MA,
Marafi D,
Saberi A,
Hamid M,
Spaull R,
Meng L,
Lalani S,
Maqbool S,
Rahman F,
Seeger J,
Palculict TB,
Lau T,
Murphy D,
Mencacci NE,
Steindl K,
Begemann A,
Rauch A,
Akbas S,
Aslanger AD,
Salpietro V,
Yousaf H,
Ben-Shachar S,
Ejeskär K,
Al Aqeel AI,
High FA,
Armstrong-Javors AE,
Zahraei SM,
Seifi T,
Zeighami J,
Shariati G,
Sedaghat A,
Asl SN,
Shahrooei M,
Zifarelli G,
Burglen L,
Ravelli C,
Zschocke J,
Schatz UA,
Ghavideldarestani M,
Kamel WA,
Van Esch H,
Hackenberg A,
Taylor JC,
Al-Gazali L,
Bauer P,
Gleeson JJ,
Alkuraya FS,
Lupski JR,
Galehdari H,
Azizimalamiri R,
Chung WK,
Baig SM,
Houlden H,
Severino M
Brain
2023 Dec 1;146(12):5031-5043.
doi: 10.1093/brain/awad257.
PMID: 37517035Free PMC Article
Sampagar A,
Gosavi M,
Kedar P,
Patel T,
Dongerdiye R,
Mahantashetti N
Int J Hematol
2022 Feb;115(2):255-262.
Epub 2021 Oct 27
doi: 10.1007/s12185-021-03240-5.
PMID: 34704234
Kolkıran A,
Karaosmanoğlu B,
Taşkıran ZE,
Şimşek-Kiper PÖ,
Utine GE
Turk J Pediatr
2021;63(6):1091-1096.
doi: 10.24953/turkjped.2021.06.019.
PMID: 35023661
Thomas LA,
Lewis S,
Massie J,
Kirk EP,
Archibald AD,
Barlow-Stewart K,
Boardman FK,
Halliday J,
McClaren B,
Delatycki MB
Eur J Med Genet
2020 Dec;63(12):104075.
Epub 2020 Sep 30
doi: 10.1016/j.ejmg.2020.104075.
PMID: 33007447
Mäenpää J
Arch Dis Child
1972 Dec;47(256):914-23.
doi: 10.1136/adc.47.256.914.
PMID: 4119068Free PMC Article
Therapy
Morrone A,
Malvagia S,
Donati MA,
Funghini S,
Ciani F,
Pela I,
Boneh A,
Peters H,
Pasquini E,
Zammarchi E
Am J Med Genet
2002 Jul 22;111(1):10-8.
doi: 10.1002/ajmg.10532.
PMID: 12124727
Prognosis
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
Celmina M,
Micule I,
Inashkina I,
Audere M,
Kuske S,
Pereca J,
Stavusis J,
Pelnena D,
Strautmanis J
Clin Genet
2019 Jan;95(1):63-78.
Epub 2018 Jul 8
doi: 10.1111/cge.13374.
PMID: 29722015
Innes AM,
McInnes BL,
Dyment DA
Am J Med Genet C Semin Med Genet
2018 Dec;178(4):387-397.
doi: 10.1002/ajmg.c.31661.
PMID: 30580484
Moog U,
van Mierlo I,
van Schrojenstein Lantman-de Valk HM,
Spaapen L,
Maaskant MA,
Curfs LM
Am J Med Genet C Semin Med Genet
2007 Aug 15;145C(3):293-301.
doi: 10.1002/ajmg.c.30142.
PMID: 17640047
Mäenpää J
Arch Dis Child
1972 Dec;47(256):914-23.
doi: 10.1136/adc.47.256.914.
PMID: 4119068Free PMC Article
Clinical prediction guides
Maroofian R,
Kaiyrzhanov R,
Cali E,
Zamani M,
Zaki MS,
Ferla M,
Tortora D,
Sadeghian S,
Saadi SM,
Abdullah U,
Karimiani EG,
Efthymiou S,
Yeşil G,
Alavi S,
Al Shamsi AM,
Tajsharghi H,
Abdel-Hamid MS,
Saadi NW,
Al Mutairi F,
Alabdi L,
Beetz C,
Ali Z,
Toosi MB,
Rudnik-Schöneborn S,
Babaei M,
Isohanni P,
Muhammad J,
Khan S,
Al Shalan M,
Hickey SE,
Marom D,
Elhanan E,
Kurian MA,
Marafi D,
Saberi A,
Hamid M,
Spaull R,
Meng L,
Lalani S,
Maqbool S,
Rahman F,
Seeger J,
Palculict TB,
Lau T,
Murphy D,
Mencacci NE,
Steindl K,
Begemann A,
Rauch A,
Akbas S,
Aslanger AD,
Salpietro V,
Yousaf H,
Ben-Shachar S,
Ejeskär K,
Al Aqeel AI,
High FA,
Armstrong-Javors AE,
Zahraei SM,
Seifi T,
Zeighami J,
Shariati G,
Sedaghat A,
Asl SN,
Shahrooei M,
Zifarelli G,
Burglen L,
Ravelli C,
Zschocke J,
Schatz UA,
Ghavideldarestani M,
Kamel WA,
Van Esch H,
Hackenberg A,
Taylor JC,
Al-Gazali L,
Bauer P,
Gleeson JJ,
Alkuraya FS,
Lupski JR,
Galehdari H,
Azizimalamiri R,
Chung WK,
Baig SM,
Houlden H,
Severino M
Brain
2023 Dec 1;146(12):5031-5043.
doi: 10.1093/brain/awad257.
PMID: 37517035Free PMC Article
Sczakiel HL,
Zhao M,
Wollert-Wulf B,
Danyel M,
Ehmke N,
Stoltenburg C,
Damseh N,
Al-Ashhab M,
Balci TB,
Osmond M,
Andrade A,
Schallner J,
Porrmann J,
McDonald K,
Liao M,
Oppermann H,
Platzer K,
Dierksen N,
Mojarrad M,
Eslahi A,
Bakaeean B,
Calame DG,
Lupski JR,
Firoozfar Z,
Seyedhassani SM,
Mohammadi SA,
Anwaar N,
Rahman F,
Seelow D,
Janz M,
Horn D,
Maroofian R,
Boschann F
Eur J Hum Genet
2023 Aug;31(8):905-917.
Epub 2023 May 15
doi: 10.1038/s41431-023-01382-0.
PMID: 37188825Free 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
Thomas LA,
Lewis S,
Massie J,
Kirk EP,
Archibald AD,
Barlow-Stewart K,
Boardman FK,
Halliday J,
McClaren B,
Delatycki MB
Eur J Med Genet
2020 Dec;63(12):104075.
Epub 2020 Sep 30
doi: 10.1016/j.ejmg.2020.104075.
PMID: 33007447