Etiology
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Mannaa A,
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Krajewski A,
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Ghaffar A,
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Riazuddin S,
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Parkinsonism Relat Disord
2019 Dec;69:99-103.
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Trends Genet
2014 Jan;30(1):32-9.
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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.
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Kalyon S,
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Turk J Gastroenterol
2019 Jan;30(1):105-108.
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van Wegberg AMJ,
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Blau N,
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Burlina A,
Campistol J,
Feillet F,
Giżewska M,
Huijbregts SC,
Kearney S,
Leuzzi V,
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Muntau AC,
van Rijn M,
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Walter JH,
van Spronsen FJ
Orphanet J Rare Dis
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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.
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Martinelli D,
Diodato D,
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Orphanet J Rare Dis
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Therapy
Matevosyan NR
Arch Gynecol Obstet
2016 Jan;293(1):87-99.
Epub 2015 Jun 11
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Hirvasniemi A,
Herrala P,
Leisti J
Epilepsia
1995 Aug;36(8):792-7.
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PMID: 7635097
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
Ghaffar A,
Rasheed F,
Rashid M,
van Bokhoven H,
Ahmed ZM,
Riazuddin S,
Riazuddin S
Eur J Hum Genet
2022 Feb;30(2):243-247.
Epub 2021 Nov 8
doi: 10.1038/s41431-021-00968-w.
PMID: 34750527Free PMC Article
Rudenskaya GE,
Kadnikova VA,
Ryzhkova OP,
Bessonova LA,
Dadali EL,
Guseva DS,
Markova TV,
Khmelkova DN,
Polyakov AV
BMC Neurol
2020 Aug 3;20(1):290.
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PMID: 32746806Free PMC Article
Bohlega S,
Abusrair AH,
Al-Ajlan FS,
Alharbi N,
Al-Semari A,
Bohlega B,
Abualsaud D,
Alkuraya F
Parkinsonism Relat Disord
2019 Dec;69:99-103.
Epub 2019 Oct 13
doi: 10.1016/j.parkreldis.2019.10.007.
PMID: 31726291
Martinelli D,
Diodato D,
Ponzi E,
Monné M,
Boenzi S,
Bertini E,
Fiermonte G,
Dionisi-Vici C
Orphanet J Rare Dis
2015 Mar 11;10:29.
doi: 10.1186/s13023-015-0242-9.
PMID: 25874378Free 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
Zaqout S,
Mannaa A,
Klein O,
Krajewski A,
Klose J,
Luise-Becker L,
Elsabagh A,
Ferih K,
Kraemer N,
Ravindran E,
Makridis K,
Kaindl AM
Ann Hum Genet
2023 Mar;87(1-2):50-62.
Epub 2022 Nov 29
doi: 10.1111/ahg.12489.
PMID: 36448252
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
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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
Riazuddin S,
Hussain M,
Razzaq A,
Iqbal Z,
Shahzad M,
Polla DL,
Song Y,
van Beusekom E,
Khan AA,
Tomas-Roca L,
Rashid M,
Zahoor MY,
Wissink-Lindhout WM,
Basra MAR,
Ansar M,
Agha Z,
van Heeswijk K,
Rasheed F,
Van de Vorst M,
Veltman JA,
Gilissen C,
Akram J,
Kleefstra T,
Assir MZ;
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Grozeva D,
Carss K,
Raymond FL,
O'Connor TD,
Riazuddin SA,
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Ahmed ZM,
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van Bokhoven H,
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Mol Psychiatry
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