Etiology
Zhang Y,
Peng C,
Wang L,
Chen S,
Wang J,
Tian Z,
Wang C,
Chen X,
Zhu S,
Zhang GF,
Wang Y
Orphanet J Rare Dis
2023 Sep 9;18(1):281.
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Serey-Gaut M,
Cortes M,
Makrythanasis P,
Suri M,
Taylor AMR,
Sullivan JA,
Asleh AN,
Mitra J,
Dar MA,
McNamara A,
Shashi V,
Dugan S,
Song X,
Rosenfeld JA,
Cabrol C,
Iwaszkiewicz J,
Zoete V,
Pehlivan D,
Akdemir ZC,
Roeder ER,
Littlejohn RO,
Dibra HK,
Byrd PJ,
Stewart GS,
Geckinli BB,
Posey J,
Westman R,
Jungbluth C,
Eason J,
Sachdev R,
Evans CA,
Lemire G,
VanNoy GE,
O'Donnell-Luria A,
Mau-Them FT,
Juven A,
Piard J,
Nixon CY,
Zhu Y,
Ha T,
Buckley MF,
Thauvin C,
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Van Maldergem L,
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Dawson VL,
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Am J Hum Genet
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Chrzanowska KH,
Gregorek H,
Dembowska-Bagińska B,
Kalina MA,
Digweed M
Orphanet J Rare Dis
2012 Feb 28;7:13.
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Mitchell JJ,
Trakadis YJ,
Scriver CR
Genet Med
2011 Aug;13(8):697-707.
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PMID: 21555948
Grieco AJ
Am J Med Sci
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PMID: 324277
Diagnosis
Zhang Y,
Peng C,
Wang L,
Chen S,
Wang J,
Tian Z,
Wang C,
Chen X,
Zhu S,
Zhang GF,
Wang Y
Orphanet J Rare Dis
2023 Sep 9;18(1):281.
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PMID: 37689673Free PMC Article
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
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Urrets-Zavalía JA,
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Clin Dermatol
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Mitchell JJ,
Trakadis YJ,
Scriver CR
Genet Med
2011 Aug;13(8):697-707.
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PMID: 21555948
Malm D,
Nilssen Ø
Orphanet J Rare Dis
2008 Jul 23;3:21.
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PMID: 18651971Free PMC Article
Therapy
Deng R,
Medico-Salsench E,
Nikoncuk A,
Ramakrishnan R,
Lanko K,
Kühn NA,
van der Linde HC,
Lor-Zade S,
Albuainain F,
Shi Y,
Yousefi S,
Capo I,
van den Herik EM,
van Slegtenhorst M,
van Minkelen R,
Geeven G,
Mulder MT,
Ruijter GJG,
Lütjohann D,
Jacobs EH,
Houlden H,
Pagnamenta AT,
Metcalfe K,
Jackson A,
Banka S,
De Simone L,
Schwaede A,
Kuntz N,
Palculict TB,
Abbas S,
Umair M,
AlMuhaizea M,
Colak D,
AlQudairy H,
Alsagob M,
Pereira C,
Trunzo R,
Karageorgou V,
Bertoli-Avella AM,
Bauer P,
Bouman A,
Hoefsloot LH,
van Ham TJ,
Issa M,
Zaki MS,
Gleeson JG,
Willemsen R,
Kaya N,
Arold ST,
Maroofian R,
Sanderson LE,
Barakat TS
Acta Neuropathol
2023 Aug;146(2):353-368.
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Matevosyan NR
Arch Gynecol Obstet
2016 Jan;293(1):87-99.
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Kaler SG
Handb Clin Neurol
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Mitchell JJ,
Trakadis YJ,
Scriver CR
Genet Med
2011 Aug;13(8):697-707.
doi: 10.1097/GIM.0b013e3182141b48.
PMID: 21555948
Grieco AJ
Am J Med Sci
1977 Mar-Apr;273(2):120-32.
PMID: 324277
Prognosis
Zhang Y,
Peng C,
Wang L,
Chen S,
Wang J,
Tian Z,
Wang C,
Chen X,
Zhu S,
Zhang GF,
Wang Y
Orphanet J Rare Dis
2023 Sep 9;18(1):281.
doi: 10.1186/s13023-023-02898-w.
PMID: 37689673Free PMC Article
Saffari A,
Lau T,
Tajsharghi H,
Karimiani EG,
Kariminejad A,
Efthymiou S,
Zifarelli G,
Sultan T,
Toosi MB,
Sedighzadeh S,
Siu VM,
Ortigoza-Escobar JD,
AlShamsi AM,
Ibrahim S,
Al-Sannaa NA,
Al-Hertani W,
Sandra W,
Tarnopolsky M,
Alavi S,
Li C,
Day-Salvatore DL,
Martínez-González MJ,
Levandoski KM,
Bedoukian E,
Madan-Khetarpal S,
Idleburg MJ,
Menezes MJ,
Siddharth A,
Platzer K,
Oppermann H,
Smitka M,
Collins F,
Lek M,
Shahrooei M,
Ghavideldarestani M,
Herman I,
Rendu J,
Faure J,
Baker J,
Bhambhani V,
Calderwood L,
Akhondian J,
Imannezhad S,
Mirzadeh HS,
Hashemi N,
Doosti M,
Safi M,
Ahangari N,
Torbati PN,
Abedini S,
Salpietro V,
Gulec EY,
Eshaghian S,
Ghazavi M,
Pascher MT,
Vogel M,
Abicht A,
Moutton S,
Bruel AL,
Rieubland C,
Gallati S,
Strom TM,
Lochmüller H,
Mohammadi MH,
Alvi JR,
Zackai EH,
Keena BA,
Skraban CM,
Berger SI,
Andrew EH,
Rahimian E,
Morrow MM,
Wentzensen IM,
Millan F,
Henderson LB,
Dafsari HS,
Jungbluth H,
Gomez-Ospina N,
McRae A,
Peter M,
Veltra D,
Marinakis NM,
Sofocleous C,
Ashrafzadeh F,
Pehlivan D,
Lemke JR,
Melki J,
Benezit A,
Bauer P,
Weis D,
Lupski JR,
Senderek J,
Christodoulou J,
Chung WK,
Goodchild R,
Offiah AC,
Moreno-De-Luca A,
Suri M,
Ebrahimi-Fakhari D,
Houlden H,
Maroofian R
Brain
2023 Aug 1;146(8):3273-3288.
doi: 10.1093/brain/awad039.
PMID: 36757831Free 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,
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Møller RS,
Sadleir LG
Epilepsia
2022 Apr;63(4):974-991.
Epub 2022 Feb 18
doi: 10.1111/epi.17173.
PMID: 35179230
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
Malm D,
Nilssen Ø
Orphanet J Rare Dis
2008 Jul 23;3:21.
doi: 10.1186/1750-1172-3-21.
PMID: 18651971Free PMC Article
Clinical prediction guides
Saffari A,
Lau T,
Tajsharghi H,
Karimiani EG,
Kariminejad A,
Efthymiou S,
Zifarelli G,
Sultan T,
Toosi MB,
Sedighzadeh S,
Siu VM,
Ortigoza-Escobar JD,
AlShamsi AM,
Ibrahim S,
Al-Sannaa NA,
Al-Hertani W,
Sandra W,
Tarnopolsky M,
Alavi S,
Li C,
Day-Salvatore DL,
Martínez-González MJ,
Levandoski KM,
Bedoukian E,
Madan-Khetarpal S,
Idleburg MJ,
Menezes MJ,
Siddharth A,
Platzer K,
Oppermann H,
Smitka M,
Collins F,
Lek M,
Shahrooei M,
Ghavideldarestani M,
Herman I,
Rendu J,
Faure J,
Baker J,
Bhambhani V,
Calderwood L,
Akhondian J,
Imannezhad S,
Mirzadeh HS,
Hashemi N,
Doosti M,
Safi M,
Ahangari N,
Torbati PN,
Abedini S,
Salpietro V,
Gulec EY,
Eshaghian S,
Ghazavi M,
Pascher MT,
Vogel M,
Abicht A,
Moutton S,
Bruel AL,
Rieubland C,
Gallati S,
Strom TM,
Lochmüller H,
Mohammadi MH,
Alvi JR,
Zackai EH,
Keena BA,
Skraban CM,
Berger SI,
Andrew EH,
Rahimian E,
Morrow MM,
Wentzensen IM,
Millan F,
Henderson LB,
Dafsari HS,
Jungbluth H,
Gomez-Ospina N,
McRae A,
Peter M,
Veltra D,
Marinakis NM,
Sofocleous C,
Ashrafzadeh F,
Pehlivan D,
Lemke JR,
Melki J,
Benezit A,
Bauer P,
Weis D,
Lupski JR,
Senderek J,
Christodoulou J,
Chung WK,
Goodchild R,
Offiah AC,
Moreno-De-Luca A,
Suri M,
Ebrahimi-Fakhari D,
Houlden H,
Maroofian R
Brain
2023 Aug 1;146(8):3273-3288.
doi: 10.1093/brain/awad039.
PMID: 36757831Free PMC Article
Neri S,
Maia N,
Fortuna AM,
Damasio J,
Coale E,
Willis M,
Jorge P,
Højte AF,
Fenger CD,
Møller RS,
Bayat A
Eur J Med Genet
2022 Nov;65(11):104624.
Epub 2022 Sep 18
doi: 10.1016/j.ejmg.2022.104624.
PMID: 36130690
Musante L,
Faletra F,
Meier K,
Tomoum H,
Najarzadeh Torbati P,
Blair E,
North S,
Gärtner J,
Diegmann S,
Beiraghi Toosi M,
Ashrafzadeh F,
Ghayoor Karimiani E,
Murphy D,
Murru FM,
Zanus C,
Magnolato A,
La Bianca M,
Feresin A,
Girotto G,
Gasparini P,
Costa P,
Carrozzi M
Am J Med Genet A
2022 Sep;188(9):2652-2665.
Epub 2022 Jun 7
doi: 10.1002/ajmg.a.62852.
PMID: 35670379Free 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
Muzammal M,
Ahmad S,
Ali MZ,
Khan MA
Ann Hum Genet
2021 Sep;85(5):147-154.
Epub 2021 Apr 21
doi: 10.1111/ahg.12425.
PMID: 33881165