Etiology
Curatolo P,
Trivisano M,
Specchio N
Semin Pediatr Neurol
2023 Oct;47:101086.
Epub 2023 Sep 18
doi: 10.1016/j.spen.2023.101086.
PMID: 37919037
Mohan P,
Lemoine J,
Trotter C,
Rakova I,
Billings P,
Peacock S,
Kao CY,
Wang Y,
Xia F,
Eng CM,
Benn P
Ultrasound Obstet Gynecol
2022 Jan;59(1):33-39.
doi: 10.1002/uog.23756.
PMID: 34358384Free PMC Article
Tekendo-Ngongang C,
Owosela B,
Fleischer N,
Addissie YA,
Malonga B,
Badoe E,
Gupta N,
Moresco A,
Huckstadt V,
Ashaat EA,
Hussen DF,
Luk HM,
Lo IFM,
Hon-Yin Chung B,
Fung JLF,
Moretti-Ferreira D,
Batista LC,
Lotz-Esquivel S,
Saborio-Rocafort M,
Badilla-Porras R,
Penon Portmann M,
Jones KL,
Abdul-Rahman OA,
Uwineza A,
Prijoles EJ,
Ifeorah IK,
Llamos Paneque A,
Sirisena ND,
Dowsett L,
Lee S,
Cappuccio G,
Kitchin CS,
Diaz-Kuan A,
Thong MK,
Obregon MG,
Mutesa L,
Dissanayake VHW,
El Ruby MO,
Brunetti-Pierri N,
Ekure EN,
Stevenson RE,
Muenke M,
Kruszka P
Am J Med Genet A
2020 Dec;182(12):2939-2950.
Epub 2020 Sep 27
doi: 10.1002/ajmg.a.61888.
PMID: 32985117
Curatolo P,
Moavero R,
Roberto D,
Graziola F
Semin Pediatr Neurol
2015 Dec;22(4):259-73.
Epub 2015 Oct 21
doi: 10.1016/j.spen.2015.10.002.
PMID: 26706013
Jones AC,
Shyamsundar MM,
Thomas MW,
Maynard J,
Idziaszczyk S,
Tomkins S,
Sampson JR,
Cheadle JP
Am J Hum Genet
1999 May;64(5):1305-15.
doi: 10.1086/302381.
PMID: 10205261Free PMC Article
Diagnosis
Mohan P,
Lemoine J,
Trotter C,
Rakova I,
Billings P,
Peacock S,
Kao CY,
Wang Y,
Xia F,
Eng CM,
Benn P
Ultrasound Obstet Gynecol
2022 Jan;59(1):33-39.
doi: 10.1002/uog.23756.
PMID: 34358384Free PMC Article
Velmans C,
O'Donnell-Luria AH,
Argilli E,
Tran Mau-Them F,
Vitobello A,
Chan MC,
Fung JL,
Rech M,
Abicht A,
Aubert Mucca M,
Carmichael J,
Chassaing N,
Clark R,
Coubes C,
Denommé-Pichon AS,
de Dios JK,
England E,
Funalot B,
Gerard M,
Joseph M,
Kennedy C,
Kumps C,
Willems M,
van de Laar IMBH,
Aarts-Tesselaar C,
van Slegtenhorst M,
Lehalle D,
Leppig K,
Lessmeier L,
Pais LS,
Paterson H,
Ramanathan S,
Rodan LH,
Superti-Furga A,
Chung BHY,
Sherr E,
Netzer C,
Schaaf CP,
Erger F
J Med Genet
2022 Jul;59(7):697-705.
Epub 2021 Jul 28
doi: 10.1136/jmedgenet-2020-107470.
PMID: 34321323Free PMC Article
Fortea J,
Vilaplana E,
Carmona-Iragui M,
Benejam B,
Videla L,
Barroeta I,
Fernández S,
Altuna M,
Pegueroles J,
Montal V,
Valldeneu S,
Giménez S,
González-Ortiz S,
Muñoz L,
Estellés T,
Illán-Gala I,
Belbin O,
Camacho V,
Wilson LR,
Annus T,
Osorio RS,
Videla S,
Lehmann S,
Holland AJ,
Alcolea D,
Clarimón J,
Zaman SH,
Blesa R,
Lleó A
Lancet
2020 Jun 27;395(10242):1988-1997.
doi: 10.1016/S0140-6736(20)30689-9.
PMID: 32593336Free PMC Article
Uysal SP,
Şahin M
Turk J Med Sci
2020 Nov 3;50(SI-2):1665-1676.
doi: 10.3906/sag-2002-133.
PMID: 32222129Free PMC Article
Islam MP,
Roach ES
Handb Clin Neurol
2015;132:97-109.
doi: 10.1016/B978-0-444-62702-5.00006-8.
PMID: 26564073
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
Hetzelt KLML,
Kerling F,
Kraus C,
Rauch C,
Thiel CT,
Winterholler M,
Reis A,
Zweier C
Eur J Med Genet
2021 Jan;64(1):104123.
Epub 2020 Dec 15
doi: 10.1016/j.ejmg.2020.104123.
PMID: 33338668
Fortea J,
Vilaplana E,
Carmona-Iragui M,
Benejam B,
Videla L,
Barroeta I,
Fernández S,
Altuna M,
Pegueroles J,
Montal V,
Valldeneu S,
Giménez S,
González-Ortiz S,
Muñoz L,
Estellés T,
Illán-Gala I,
Belbin O,
Camacho V,
Wilson LR,
Annus T,
Osorio RS,
Videla S,
Lehmann S,
Holland AJ,
Alcolea D,
Clarimón J,
Zaman SH,
Blesa R,
Lleó A
Lancet
2020 Jun 27;395(10242):1988-1997.
doi: 10.1016/S0140-6736(20)30689-9.
PMID: 32593336Free PMC Article
Matevosyan NR
Arch Gynecol Obstet
2016 Jan;293(1):87-99.
Epub 2015 Jun 11
doi: 10.1007/s00404-015-3770-6.
PMID: 26063342
Cohen FL
Nurs Clin North Am
1986 Mar;21(1):49-64.
PMID: 2937020
Prognosis
Curatolo P,
Trivisano M,
Specchio N
Semin Pediatr Neurol
2023 Oct;47:101086.
Epub 2023 Sep 18
doi: 10.1016/j.spen.2023.101086.
PMID: 37919037
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
Tekendo-Ngongang C,
Owosela B,
Fleischer N,
Addissie YA,
Malonga B,
Badoe E,
Gupta N,
Moresco A,
Huckstadt V,
Ashaat EA,
Hussen DF,
Luk HM,
Lo IFM,
Hon-Yin Chung B,
Fung JLF,
Moretti-Ferreira D,
Batista LC,
Lotz-Esquivel S,
Saborio-Rocafort M,
Badilla-Porras R,
Penon Portmann M,
Jones KL,
Abdul-Rahman OA,
Uwineza A,
Prijoles EJ,
Ifeorah IK,
Llamos Paneque A,
Sirisena ND,
Dowsett L,
Lee S,
Cappuccio G,
Kitchin CS,
Diaz-Kuan A,
Thong MK,
Obregon MG,
Mutesa L,
Dissanayake VHW,
El Ruby MO,
Brunetti-Pierri N,
Ekure EN,
Stevenson RE,
Muenke M,
Kruszka P
Am J Med Genet A
2020 Dec;182(12):2939-2950.
Epub 2020 Sep 27
doi: 10.1002/ajmg.a.61888.
PMID: 32985117
Fortea J,
Vilaplana E,
Carmona-Iragui M,
Benejam B,
Videla L,
Barroeta I,
Fernández S,
Altuna M,
Pegueroles J,
Montal V,
Valldeneu S,
Giménez S,
González-Ortiz S,
Muñoz L,
Estellés T,
Illán-Gala I,
Belbin O,
Camacho V,
Wilson LR,
Annus T,
Osorio RS,
Videla S,
Lehmann S,
Holland AJ,
Alcolea D,
Clarimón J,
Zaman SH,
Blesa R,
Lleó A
Lancet
2020 Jun 27;395(10242):1988-1997.
doi: 10.1016/S0140-6736(20)30689-9.
PMID: 32593336Free PMC Article
Jones AC,
Shyamsundar MM,
Thomas MW,
Maynard J,
Idziaszczyk S,
Tomkins S,
Sampson JR,
Cheadle JP
Am J Hum Genet
1999 May;64(5):1305-15.
doi: 10.1086/302381.
PMID: 10205261Free PMC Article
Clinical prediction guides
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
Mohan P,
Lemoine J,
Trotter C,
Rakova I,
Billings P,
Peacock S,
Kao CY,
Wang Y,
Xia F,
Eng CM,
Benn P
Ultrasound Obstet Gynecol
2022 Jan;59(1):33-39.
doi: 10.1002/uog.23756.
PMID: 34358384Free PMC Article
Velmans C,
O'Donnell-Luria AH,
Argilli E,
Tran Mau-Them F,
Vitobello A,
Chan MC,
Fung JL,
Rech M,
Abicht A,
Aubert Mucca M,
Carmichael J,
Chassaing N,
Clark R,
Coubes C,
Denommé-Pichon AS,
de Dios JK,
England E,
Funalot B,
Gerard M,
Joseph M,
Kennedy C,
Kumps C,
Willems M,
van de Laar IMBH,
Aarts-Tesselaar C,
van Slegtenhorst M,
Lehalle D,
Leppig K,
Lessmeier L,
Pais LS,
Paterson H,
Ramanathan S,
Rodan LH,
Superti-Furga A,
Chung BHY,
Sherr E,
Netzer C,
Schaaf CP,
Erger F
J Med Genet
2022 Jul;59(7):697-705.
Epub 2021 Jul 28
doi: 10.1136/jmedgenet-2020-107470.
PMID: 34321323Free PMC Article
Fortea J,
Vilaplana E,
Carmona-Iragui M,
Benejam B,
Videla L,
Barroeta I,
Fernández S,
Altuna M,
Pegueroles J,
Montal V,
Valldeneu S,
Giménez S,
González-Ortiz S,
Muñoz L,
Estellés T,
Illán-Gala I,
Belbin O,
Camacho V,
Wilson LR,
Annus T,
Osorio RS,
Videla S,
Lehmann S,
Holland AJ,
Alcolea D,
Clarimón J,
Zaman SH,
Blesa R,
Lleó A
Lancet
2020 Jun 27;395(10242):1988-1997.
doi: 10.1016/S0140-6736(20)30689-9.
PMID: 32593336Free PMC Article
Jones AC,
Shyamsundar MM,
Thomas MW,
Maynard J,
Idziaszczyk S,
Tomkins S,
Sampson JR,
Cheadle JP
Am J Hum Genet
1999 May;64(5):1305-15.
doi: 10.1086/302381.
PMID: 10205261Free PMC Article