Etiology
Whitney R,
Jain P,
RamachandranNair R,
Jones KC,
Kiani H,
Tarnopolsky M,
Meaney B
Epilepsia Open
2023 Jun;8(2):623-632.
Epub 2023 Apr 24
doi: 10.1002/epi4.12747.
PMID: 37067065Free PMC Article
Schwartz DD,
Fein RH,
Carvalho CMB,
Sutton VR,
Mazzeu JF,
Axelrad ME
Am J Med Genet A
2021 Dec;185(12):3576-3583.
Epub 2020 Sep 21
doi: 10.1002/ajmg.a.61854.
PMID: 32954672
Santiago-Sim T,
Burrage LC,
Ebstein F,
Tokita MJ,
Miller M,
Bi W,
Braxton AA,
Rosenfeld JA,
Shahrour M,
Lehmann A,
Cogné B,
Küry S,
Besnard T,
Isidor B,
Bézieau S,
Hazart I,
Nagakura H,
Immken LL,
Littlejohn RO,
Roeder E;
EuroEPINOMICS RES Consortium Autosomal Recessive working group, S. Hande Caglayan,
Kara B,
Hardies K,
Weckhuysen S,
May P,
Lemke JR,
Elpeleg O,
Abu-Libdeh B,
James KN,
Silhavy JL,
Issa MY,
Zaki MS,
Gleeson JG,
Seavitt JR,
Dickinson ME,
Ljungberg MC,
Wells S,
Johnson SJ,
Teboul L,
Eng CM,
Yang Y,
Kloetzel PM,
Heaney JD,
Walkiewicz MA
Am J Hum Genet
2017 Apr 6;100(4):676-688.
Epub 2017 Mar 23
doi: 10.1016/j.ajhg.2017.03.001.
PMID: 28343629Free PMC Article
Boukhris A,
Schule R,
Loureiro JL,
Lourenço CM,
Mundwiller E,
Gonzalez MA,
Charles P,
Gauthier J,
Rekik I,
Acosta Lebrigio RF,
Gaussen M,
Speziani F,
Ferbert A,
Feki I,
Caballero-Oteyza A,
Dionne-Laporte A,
Amri M,
Noreau A,
Forlani S,
Cruz VT,
Mochel F,
Coutinho P,
Dion P,
Mhiri C,
Schols L,
Pouget J,
Darios F,
Rouleau GA,
Marques W Jr,
Brice A,
Durr A,
Zuchner S,
Stevanin G
Am J Hum Genet
2013 Jul 11;93(1):118-23.
Epub 2013 Jun 6
doi: 10.1016/j.ajhg.2013.05.006.
PMID: 23746551Free PMC Article
O'Dea D,
Parfrey PS,
Harnett JD,
Hefferton D,
Cramer BC,
Green J
Am J Kidney Dis
1996 Jun;27(6):776-83.
doi: 10.1016/s0272-6386(96)90513-2.
PMID: 8651240
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.
doi: 10.1093/brain/awad257.
PMID: 37517035Free PMC Article
Whitney R,
Jain P,
RamachandranNair R,
Jones KC,
Kiani H,
Tarnopolsky M,
Meaney B
Epilepsia Open
2023 Jun;8(2):623-632.
Epub 2023 Apr 24
doi: 10.1002/epi4.12747.
PMID: 37067065Free PMC Article
Pop A,
Smith DEC,
Kirby T,
Walters D,
Gibson KM,
Mahmoudi S,
van Dooren SJM,
Kanhai WA,
Fernandez-Ojeda MR,
Wever EJM,
Koster J,
Waterham HR,
Grob B,
Roos B,
Wamelink MMC,
Chen J,
Natesan S,
Salomons GS
Mol Genet Metab
2020 Jul;130(3):172-178.
Epub 2020 May 4
doi: 10.1016/j.ymgme.2020.04.004.
PMID: 32402538
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
Urrets-Zavalía JA,
Espósito E,
Garay I,
Monti R,
Ruiz-Lascano A,
Correa L,
Serra HM,
Grzybowski A
Clin Dermatol
2016 Mar-Apr;34(2):166-82.
Epub 2015 Dec 7
doi: 10.1016/j.clindermatol.2015.12.002.
PMID: 26903184
Therapy
Zlotogora J,
Dagan J,
Ganen A,
Abu-Libdeh M,
Ben-Neriah Z,
Cohen T
J Med Genet
1997 Oct;34(10):813-6.
doi: 10.1136/jmg.34.10.813.
PMID: 9350812Free PMC Article
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
Pop A,
Smith DEC,
Kirby T,
Walters D,
Gibson KM,
Mahmoudi S,
van Dooren SJM,
Kanhai WA,
Fernandez-Ojeda MR,
Wever EJM,
Koster J,
Waterham HR,
Grob B,
Roos B,
Wamelink MMC,
Chen J,
Natesan S,
Salomons GS
Mol Genet Metab
2020 Jul;130(3):172-178.
Epub 2020 May 4
doi: 10.1016/j.ymgme.2020.04.004.
PMID: 32402538
Santiago-Sim T,
Burrage LC,
Ebstein F,
Tokita MJ,
Miller M,
Bi W,
Braxton AA,
Rosenfeld JA,
Shahrour M,
Lehmann A,
Cogné B,
Küry S,
Besnard T,
Isidor B,
Bézieau S,
Hazart I,
Nagakura H,
Immken LL,
Littlejohn RO,
Roeder E;
EuroEPINOMICS RES Consortium Autosomal Recessive working group, S. Hande Caglayan,
Kara B,
Hardies K,
Weckhuysen S,
May P,
Lemke JR,
Elpeleg O,
Abu-Libdeh B,
James KN,
Silhavy JL,
Issa MY,
Zaki MS,
Gleeson JG,
Seavitt JR,
Dickinson ME,
Ljungberg MC,
Wells S,
Johnson SJ,
Teboul L,
Eng CM,
Yang Y,
Kloetzel PM,
Heaney JD,
Walkiewicz MA
Am J Hum Genet
2017 Apr 6;100(4):676-688.
Epub 2017 Mar 23
doi: 10.1016/j.ajhg.2017.03.001.
PMID: 28343629Free PMC Article
Pohl E,
Aykut A,
Beleggia F,
Karaca E,
Durmaz B,
Keupp K,
Arslan E,
Palamar M,
Yigit G,
Özkinay F,
Wollnik B
Hum Genet
2013 Nov;132(11):1311-20.
Epub 2013 Jul 13
doi: 10.1007/s00439-013-1337-9.
PMID: 23851939
O'Dea D,
Parfrey PS,
Harnett JD,
Hefferton D,
Cramer BC,
Green J
Am J Kidney Dis
1996 Jun;27(6):776-83.
doi: 10.1016/s0272-6386(96)90513-2.
PMID: 8651240
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
Whitney R,
Jain P,
RamachandranNair R,
Jones KC,
Kiani H,
Tarnopolsky M,
Meaney B
Epilepsia Open
2023 Jun;8(2):623-632.
Epub 2023 Apr 24
doi: 10.1002/epi4.12747.
PMID: 37067065Free 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
Santiago-Sim T,
Burrage LC,
Ebstein F,
Tokita MJ,
Miller M,
Bi W,
Braxton AA,
Rosenfeld JA,
Shahrour M,
Lehmann A,
Cogné B,
Küry S,
Besnard T,
Isidor B,
Bézieau S,
Hazart I,
Nagakura H,
Immken LL,
Littlejohn RO,
Roeder E;
EuroEPINOMICS RES Consortium Autosomal Recessive working group, S. Hande Caglayan,
Kara B,
Hardies K,
Weckhuysen S,
May P,
Lemke JR,
Elpeleg O,
Abu-Libdeh B,
James KN,
Silhavy JL,
Issa MY,
Zaki MS,
Gleeson JG,
Seavitt JR,
Dickinson ME,
Ljungberg MC,
Wells S,
Johnson SJ,
Teboul L,
Eng CM,
Yang Y,
Kloetzel PM,
Heaney JD,
Walkiewicz MA
Am J Hum Genet
2017 Apr 6;100(4):676-688.
Epub 2017 Mar 23
doi: 10.1016/j.ajhg.2017.03.001.
PMID: 28343629Free PMC Article
Pohl E,
Aykut A,
Beleggia F,
Karaca E,
Durmaz B,
Keupp K,
Arslan E,
Palamar M,
Yigit G,
Özkinay F,
Wollnik B
Hum Genet
2013 Nov;132(11):1311-20.
Epub 2013 Jul 13
doi: 10.1007/s00439-013-1337-9.
PMID: 23851939