Etiology
Abdul Ghani S,
Burney S,
Ul Hussain H,
Abdul Wahid M,
Mumtaz H
Int J Surg
2023 Sep 1;109(9):2882-2885.
doi: 10.1097/JS9.0000000000000528.
PMID: 37352513Free PMC Article
Masri AT,
Oweis L,
Ali M,
Hamamy H
Clin Neurol Neurosurg
2023 Jul;230:107799.
Epub 2023 May 22
doi: 10.1016/j.clineuro.2023.107799.
PMID: 37236004
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,
Essien Umanah GK,
Van Maldergem L,
Lupski JR,
Roscioli T,
Dawson VL,
Dawson TM,
Antonarakis SE
Am J Hum Genet
2023 Mar 2;110(3):499-515.
Epub 2023 Jan 31
doi: 10.1016/j.ajhg.2023.01.006.
PMID: 36724785Free PMC Article
Tremblay M,
Girard-Côté L,
Brais B,
Gagnon C
Orphanet J Rare Dis
2022 Oct 1;17(1):369.
doi: 10.1186/s13023-022-02497-1.
PMID: 36183078Free 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
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
Abdul Ghani S,
Burney S,
Ul Hussain H,
Abdul Wahid M,
Mumtaz H
Int J Surg
2023 Sep 1;109(9):2882-2885.
doi: 10.1097/JS9.0000000000000528.
PMID: 37352513Free PMC Article
Masri AT,
Oweis L,
Ali M,
Hamamy H
Clin Neurol Neurosurg
2023 Jul;230:107799.
Epub 2023 May 22
doi: 10.1016/j.clineuro.2023.107799.
PMID: 37236004
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
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
Abdul Ghani S,
Burney S,
Ul Hussain H,
Abdul Wahid M,
Mumtaz H
Int J Surg
2023 Sep 1;109(9):2882-2885.
doi: 10.1097/JS9.0000000000000528.
PMID: 37352513Free PMC Article
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
Sohail AH,
Durrani MYK,
Ibrahim SH,
Humayun KN
J Coll Physicians Surg Pak
2018 Sep;28(9):S192-S194.
doi: 10.29271/jcpsp.2018.09.S192.
PMID: 30173695
Srivastava S,
Cohen JS,
Vernon H,
Barañano K,
McClellan R,
Jamal L,
Naidu S,
Fatemi A
Ann Neurol
2014 Oct;76(4):473-83.
Epub 2014 Aug 30
doi: 10.1002/ana.24251.
PMID: 25131622
Bosley TM,
Salih MA,
Alorainy IA,
Islam MZ,
Oystreck DT,
Suliman OS,
al Malki S,
Suhaibani AH,
Khiari H,
Beckers S,
van Wesenbeeck L,
Perdu B,
AlDrees A,
Elmalik SA,
Van Hul W,
Abu-Amero KK
Brain
2011 Dec;134(Pt 12):3502-15.
Epub 2011 Nov 26
doi: 10.1093/brain/awr302.
PMID: 22120147
Prognosis
Mattioli F,
Worpenberg L,
Li CT,
Ibrahim N,
Naz S,
Sharif S,
Firouzabadi SG,
Vosoogh S,
Saraeva-Lamri R,
Raymond L,
Trujillo C,
Guex N,
Antonarakis SE,
Ansar M,
Darvish H,
Liu RJ,
Roignant JY,
Reymond A
Genet Med
2023 Sep;25(9):100900.
Epub 2023 May 21
doi: 10.1016/j.gim.2023.100900.
PMID: 37226891
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
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
Fraidakis MJ
Transl Psychiatry
2013 Sep 3;3(9):e302.
doi: 10.1038/tp.2013.76.
PMID: 24002088Free 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
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
Mattioli F,
Worpenberg L,
Li CT,
Ibrahim N,
Naz S,
Sharif S,
Firouzabadi SG,
Vosoogh S,
Saraeva-Lamri R,
Raymond L,
Trujillo C,
Guex N,
Antonarakis SE,
Ansar M,
Darvish H,
Liu RJ,
Roignant JY,
Reymond A
Genet Med
2023 Sep;25(9):100900.
Epub 2023 May 21
doi: 10.1016/j.gim.2023.100900.
PMID: 37226891
Langhammer F,
Maroofian R,
Badar R,
Gregor A,
Rochman M,
Ratliff JB,
Koopmans M,
Herget T,
Hempel M,
Kortüm F,
Heron D,
Mignot C,
Keren B,
Brooks S,
Botti C,
Ben-Zeev B,
Argilli E,
Sherr EH,
Gowda VK,
Srinivasan VM,
Bakhtiari S,
Kruer MC,
Salih MA,
Kuechler A,
Muller EA,
Blocker K,
Kuismin O,
Park KL,
Kochhar A,
Brown K,
Ramanathan S,
Clark RD,
Elgizouli M,
Melikishvili G,
Tabatadze N,
Stark Z,
Mirzaa GM,
Ong J,
Grasshoff U,
Bevot A,
von Wintzingerode L,
Jamra RA,
Hennig Y,
Goldenberg P,
Al Alam C,
Charif M,
Boulouiz R,
Bellaoui M,
Amrani R,
Al Mutairi F,
Tamim AM,
Abdulwahab F,
Alkuraya FS,
Khouj EM,
Alvi JR,
Sultan T,
Hashemi N,
Karimiani EG,
Ashrafzadeh F,
Imannezhad S,
Efthymiou S,
Houlden H,
Sticht H,
Zweier C
Genet Med
2023 Aug;25(8):100885.
Epub 2023 May 8
doi: 10.1016/j.gim.2023.100885.
PMID: 37165955
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
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