Etiology
Cammarata-Scalisi F,
Diociaiuti A,
Cárdenas Tadich A,
Sandoval X,
Oranges T,
Filippeschi C,
Araya Castillo M,
Willoughby CE,
Cerri A,
Gervasini C,
Callea M
Ital J Dermatol Venerol
2023 Aug;158(4):316-320.
Epub 2023 Jun 7
doi: 10.23736/S2784-8671.23.07547-3.
PMID: 37282850
Wojcik MH,
Srivastava S,
Agrawal PB,
Balci TB,
Callewaert B,
Calvo PL,
Carli D,
Caudle M,
Colaiacovo S,
Cross L,
Demetriou K,
Drazba K,
Dutra-Clarke M,
Edwards M,
Genetti CA,
Grange DK,
Hickey SE,
Isidor B,
Küry S,
Lachman HM,
Lavillaureix A,
Lyons MJ,
Marcelis C,
Marco EJ,
Martinez-Agosto JA,
Nowak C,
Pizzol A,
Planes M,
Prijoles EJ,
Riberi E,
Rush ET,
Russell BE,
Sachdev R,
Schmalz B,
Shears D,
Stevenson DA,
Wilson K,
Jansen S,
de Vries BBA,
Curry CJ
Am J Med Genet A
2023 Jul;191(7):1900-1910.
Epub 2023 May 14
doi: 10.1002/ajmg.a.63226.
PMID: 37183572Free PMC Article
Iulita MF,
Garzón Chavez D,
Klitgaard Christensen M,
Valle Tamayo N,
Plana-Ripoll O,
Rasmussen SA,
Roqué Figuls M,
Alcolea D,
Videla L,
Barroeta I,
Benejam B,
Altuna M,
Padilla C,
Pegueroles J,
Fernandez S,
Belbin O,
Carmona-Iragui M,
Blesa R,
Lleó A,
Bejanin A,
Fortea J
JAMA Netw Open
2022 May 2;5(5):e2212910.
doi: 10.1001/jamanetworkopen.2022.12910.
PMID: 35604690Free PMC Article
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
Vogel F
Hum Genet
1979 Nov 1;52(1):1-54.
doi: 10.1007/BF00284597.
PMID: 393614
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
Cammarata-Scalisi F,
Diociaiuti A,
Cárdenas Tadich A,
Sandoval X,
Oranges T,
Filippeschi C,
Araya Castillo M,
Willoughby CE,
Cerri A,
Gervasini C,
Callea M
Ital J Dermatol Venerol
2023 Aug;158(4):316-320.
Epub 2023 Jun 7
doi: 10.23736/S2784-8671.23.07547-3.
PMID: 37282850
Wojcik MH,
Srivastava S,
Agrawal PB,
Balci TB,
Callewaert B,
Calvo PL,
Carli D,
Caudle M,
Colaiacovo S,
Cross L,
Demetriou K,
Drazba K,
Dutra-Clarke M,
Edwards M,
Genetti CA,
Grange DK,
Hickey SE,
Isidor B,
Küry S,
Lachman HM,
Lavillaureix A,
Lyons MJ,
Marcelis C,
Marco EJ,
Martinez-Agosto JA,
Nowak C,
Pizzol A,
Planes M,
Prijoles EJ,
Riberi E,
Rush ET,
Russell BE,
Sachdev R,
Schmalz B,
Shears D,
Stevenson DA,
Wilson K,
Jansen S,
de Vries BBA,
Curry CJ
Am J Med Genet A
2023 Jul;191(7):1900-1910.
Epub 2023 May 14
doi: 10.1002/ajmg.a.63226.
PMID: 37183572Free PMC Article
Burglen L,
Van Hoeymissen E,
Qebibo L,
Barth M,
Belnap N,
Boschann F,
Depienne C,
De Clercq K,
Douglas AGL,
Fitzgerald MP,
Foulds N,
Garel C,
Helbig I,
Held K,
Horn D,
Janssen A,
Kaindl AM,
Narayanan V,
Prager C,
Rupin-Mas M,
Afenjar A,
Zhao S,
Ramaekers VT,
Ruggiero SM,
Thomas S,
Valence S,
Van Maldergem L,
Rohacs T,
Rodriguez D,
Dyment D,
Voets T,
Vriens J
Elife
2023 Jan 17;12
doi: 10.7554/eLife.81032.
PMID: 36648066Free PMC Article
Iulita MF,
Garzón Chavez D,
Klitgaard Christensen M,
Valle Tamayo N,
Plana-Ripoll O,
Rasmussen SA,
Roqué Figuls M,
Alcolea D,
Videla L,
Barroeta I,
Benejam B,
Altuna M,
Padilla C,
Pegueroles J,
Fernandez S,
Belbin O,
Carmona-Iragui M,
Blesa R,
Lleó A,
Bejanin A,
Fortea J
JAMA Netw Open
2022 May 2;5(5):e2212910.
doi: 10.1001/jamanetworkopen.2022.12910.
PMID: 35604690Free PMC Article
Therapy
Iulita MF,
Garzón Chavez D,
Klitgaard Christensen M,
Valle Tamayo N,
Plana-Ripoll O,
Rasmussen SA,
Roqué Figuls M,
Alcolea D,
Videla L,
Barroeta I,
Benejam B,
Altuna M,
Padilla C,
Pegueroles J,
Fernandez S,
Belbin O,
Carmona-Iragui M,
Blesa R,
Lleó A,
Bejanin A,
Fortea J
JAMA Netw Open
2022 May 2;5(5):e2212910.
doi: 10.1001/jamanetworkopen.2022.12910.
PMID: 35604690Free PMC Article
Jinxiu L,
Shuimei L,
Ming X,
Jonathan LC,
Xiangju L,
Wenyuan D
Medicine (Baltimore)
2020 Apr;99(16):e19813.
doi: 10.1097/MD.0000000000019813.
PMID: 32311999Free PMC Article
Amudhavalli SM,
Hanson R,
Angle B,
Bontempo K,
Gripp KW
Am J Med Genet A
2018 Jul;176(7):1648-1656.
doi: 10.1002/ajmg.a.38832.
PMID: 30160832
Walz K,
Cohen D,
Neilsen PM,
Foster J 2nd,
Brancati F,
Demir K,
Fisher R,
Moffat M,
Verbeek NE,
Bjørgo K,
Lo Castro A,
Curatolo P,
Novelli G,
Abad C,
Lei C,
Zhang L,
Diaz-Horta O,
Young JI,
Callen DF,
Tekin M
Hum Genet
2015 Feb;134(2):181-90.
Epub 2014 Nov 21
doi: 10.1007/s00439-014-1509-2.
PMID: 25413698
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
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
Iulita MF,
Garzón Chavez D,
Klitgaard Christensen M,
Valle Tamayo N,
Plana-Ripoll O,
Rasmussen SA,
Roqué Figuls M,
Alcolea D,
Videla L,
Barroeta I,
Benejam B,
Altuna M,
Padilla C,
Pegueroles J,
Fernandez S,
Belbin O,
Carmona-Iragui M,
Blesa R,
Lleó A,
Bejanin A,
Fortea J
JAMA Netw Open
2022 May 2;5(5):e2212910.
doi: 10.1001/jamanetworkopen.2022.12910.
PMID: 35604690Free 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.
doi: 10.1186/s12883-020-01872-4.
PMID: 32746806Free PMC Article
Ruaud L,
Rice GI,
Cabrol C,
Piard J,
Rodero M,
van Eyk L,
Boucher-Brischoux E,
de Noordhout AM,
Maré R,
Scalais E,
Pauly F,
Debray FG,
Dobyns W,
Uggenti C,
Park JW,
Hur S,
Livingston JH,
Crow YJ,
Van Maldergem L
Hum Mutat
2018 Aug;39(8):1076-1080.
Epub 2018 Jun 4
doi: 10.1002/humu.23554.
PMID: 29782060Free 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
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
Iulita MF,
Garzón Chavez D,
Klitgaard Christensen M,
Valle Tamayo N,
Plana-Ripoll O,
Rasmussen SA,
Roqué Figuls M,
Alcolea D,
Videla L,
Barroeta I,
Benejam B,
Altuna M,
Padilla C,
Pegueroles J,
Fernandez S,
Belbin O,
Carmona-Iragui M,
Blesa R,
Lleó A,
Bejanin A,
Fortea J
JAMA Netw Open
2022 May 2;5(5):e2212910.
doi: 10.1001/jamanetworkopen.2022.12910.
PMID: 35604690Free PMC Article
Vogel F
Hum Genet
1979 Nov 1;52(1):1-54.
doi: 10.1007/BF00284597.
PMID: 393614