Etiology
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Diagnosis
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Badheka R,
Danda S,
Kalane U,
Kaur A,
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Ferla M,
Tortora D,
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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.
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Am J Med Genet C Semin Med Genet
2018 Dec;178(4):387-397.
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Harripaul R,
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Windpassinger C,
Sheikh TI,
Noor A,
Mahmood H,
Downey S,
Johnson M,
Vleuten K,
Bell L,
Ilyas M,
Khan FS,
Khan V,
Moradi M,
Ayaz M,
Naeem F,
Heidari A,
Ahmed I,
Ghadami S,
Agha Z,
Zeinali S,
Qamar R,
Mozhdehipanah H,
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Mol Psychiatry
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Vodopiutz J,
Seidl R,
Prayer D,
Khan MI,
Mayr JA,
Streubel B,
Steiß JO,
Hahn A,
Csaicsich D,
Castro C,
Assoum M,
Müller T,
Wieczorek D,
Mancini GM,
Sadowski CE,
Lévy N,
Mégarbané A,
Godbole K,
Schanze D,
Hildebrandt F,
Delague V,
Janecke AR,
Zenker M
Hum Mutat
2015 Nov;36(11):1021-8.
Epub 2015 Aug 6
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Therapy
Liu S,
Zhang Y,
Deng Z,
He H,
Zheng X,
Hong Q,
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Int J Mol Sci
2023 Jun 16;24(12)
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Pediatr Neurol
2014 Jul;51(1):133-7.
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Prognosis
Durand CM,
Angelini C,
Michaud V,
Delleci C,
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BMC Neurol
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Am J Med Genet C Semin Med Genet
2018 Dec;178(4):387-397.
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Beaulieu CL,
Huang L,
Innes AM,
Akimenko MA,
Puffenberger EG,
Schwartz C,
Jerry P,
Ober C,
Hegele RA,
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Maher ER,
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Alswaid A,
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Am J Hum Genet
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Obes Rev
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Clinical prediction guides
Köse E,
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İnci A,
Yıldız Y,
Sürücü Kara İ,
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Nagarajan B,
Gowda VK,
Yoganathan S,
Sharawat IK,
Srivastava K,
Vora N,
Badheka R,
Danda S,
Kalane U,
Kaur A,
Madaan P,
Mehta S,
Negi S,
Panda PK,
Rajadhyaksha S,
Saini AG,
Saini L,
Shah S,
Srinivasan VM,
Suthar R,
Thomas M,
Vyas S,
Sankhyan N,
Sahu JK
Epilepsia Open
2023 Dec;8(4):1383-1404.
Epub 2023 Aug 25
doi: 10.1002/epi4.12811.
PMID: 37583270Free PMC Article
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
Yogev Y,
Perez Y,
Noyman I,
Madegem AA,
Flusser H,
Shorer Z,
Cohen E,
Kachko L,
Michaelovsky A,
Birk R,
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Kadir R,
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Eur J Hum Genet
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Nowaczyk MJ,
Tan M,
Hamid JS,
Allanson JE
Am J Med Genet A
2012 May;158A(5):1020-8.
Epub 2012 Mar 21
doi: 10.1002/ajmg.a.35285.
PMID: 22438180