Etiology
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
Justel M,
Jou C,
Sariego-Jamardo A,
Juliá-Palacios NA,
Ortez C,
Poch ML,
Hedrera-Fernandez A,
Gomez-Martin H,
Codina A,
Dominguez-Carral J,
Muxart J,
Hernández-Laín A,
Vila-Bedmar S,
Zulaica M,
Cancho-Candela R,
Castro MDC,
de la Osa-Langreo A,
Peña-Valenceja A,
Marcos-Vadillo E,
Prieto-Matos P,
Pascual-Pascual SI,
López de Munain A,
Camacho A,
Estevez-Arias B,
Musokhranova U,
Olivella M,
Oyarzábal A,
Jimenez-Mallebrera C,
Domínguez-González C,
Nascimento A,
García-Cazorla À,
Natera-de Benito D
J Med Genet
2023 Oct;60(10):965-973.
Epub 2023 May 16
doi: 10.1136/jmg-2022-109132.
PMID: 37197784Free PMC Article
Sakakibara N,
Nozu K,
Yamamura T,
Horinouchi T,
Nagano C,
Ye MJ,
Ishiko S,
Aoto Y,
Rossanti R,
Hamada R,
Okamoto N,
Shima Y,
Nakanishi K,
Matsuo M,
Iijima K,
Morisada N
J Hum Genet
2022 Jul;67(7):427-440.
Epub 2022 Feb 9
doi: 10.1038/s10038-022-01020-5.
PMID: 35140360
Pekeles H,
Accogli A,
Boudrahem-Addour N,
Russell L,
Parente F,
Srour M
Pediatr Neurol
2019 Mar;92:32-36.
Epub 2018 Nov 22
doi: 10.1016/j.pediatrneurol.2018.11.005.
PMID: 30581057
Grieco AJ
Am J Med Sci
1977 Mar-Apr;273(2):120-32.
PMID: 324277
Diagnosis
van Spronsen FJ,
Blau N,
Harding C,
Burlina A,
Longo N,
Bosch AM
Nat Rev Dis Primers
2021 May 20;7(1):36.
doi: 10.1038/s41572-021-00267-0.
PMID: 34017006Free PMC Article
van Wegberg AMJ,
MacDonald A,
Ahring K,
Bélanger-Quintana A,
Blau N,
Bosch AM,
Burlina A,
Campistol J,
Feillet F,
Giżewska M,
Huijbregts SC,
Kearney S,
Leuzzi V,
Maillot F,
Muntau AC,
van Rijn M,
Trefz F,
Walter JH,
van Spronsen FJ
Orphanet J Rare Dis
2017 Oct 12;12(1):162.
doi: 10.1186/s13023-017-0685-2.
PMID: 29025426Free 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
2017 Mar 1;74(3):293-299.
doi: 10.1001/jamapsychiatry.2016.3798.
PMID: 28097321
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
de Ligt J,
Willemsen MH,
van Bon BW,
Kleefstra T,
Yntema HG,
Kroes T,
Vulto-van Silfhout AT,
Koolen DA,
de Vries P,
Gilissen C,
del Rosario M,
Hoischen A,
Scheffer H,
de Vries BB,
Brunner HG,
Veltman JA,
Vissers LE
N Engl J Med
2012 Nov 15;367(20):1921-9.
Epub 2012 Oct 3
doi: 10.1056/NEJMoa1206524.
PMID: 23033978
Therapy
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
Stelten BML,
Bonnot O,
Huidekoper HH,
van Spronsen FJ,
van Hasselt PM,
Kluijtmans LAJ,
Wevers RA,
Verrips A
J Inherit Metab Dis
2018 Jul;41(4):641-646.
Epub 2017 Sep 11
doi: 10.1007/s10545-017-0086-7.
PMID: 28894950
Kaler SG
Handb Clin Neurol
2013;113:1745-54.
doi: 10.1016/B978-0-444-59565-2.00045-9.
PMID: 23622398Free PMC Article
Büyükgebiz A
Pediatr Endocrinol Rev
2003 Dec;1 Suppl 2:185-90; discussion 190.
PMID: 16444157
Grieco AJ
Am J Med Sci
1977 Mar-Apr;273(2):120-32.
PMID: 324277
Prognosis
Cherian A,
K P D,
Vijayaraghavan A
Curr Opin Neurol
2023 Aug 1;36(4):292-301.
Epub 2023 May 24
doi: 10.1097/WCO.0000000000001167.
PMID: 37366140
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,
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
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
de Ligt J,
Willemsen MH,
van Bon BW,
Kleefstra T,
Yntema HG,
Kroes T,
Vulto-van Silfhout AT,
Koolen DA,
de Vries P,
Gilissen C,
del Rosario M,
Hoischen A,
Scheffer H,
de Vries BB,
Brunner HG,
Veltman JA,
Vissers LE
N Engl J Med
2012 Nov 15;367(20):1921-9.
Epub 2012 Oct 3
doi: 10.1056/NEJMoa1206524.
PMID: 23033978
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
Cherian A,
K P D,
Vijayaraghavan A
Curr Opin Neurol
2023 Aug 1;36(4):292-301.
Epub 2023 May 24
doi: 10.1097/WCO.0000000000001167.
PMID: 37366140
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,
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
de Ligt J,
Willemsen MH,
van Bon BW,
Kleefstra T,
Yntema HG,
Kroes T,
Vulto-van Silfhout AT,
Koolen DA,
de Vries P,
Gilissen C,
del Rosario M,
Hoischen A,
Scheffer H,
de Vries BB,
Brunner HG,
Veltman JA,
Vissers LE
N Engl J Med
2012 Nov 15;367(20):1921-9.
Epub 2012 Oct 3
doi: 10.1056/NEJMoa1206524.
PMID: 23033978