Etiology
Paprocka J,
Jezela-Stanek A,
Śmigiel R,
Walczak A,
Mierzewska H,
Kutkowska-Kaźmierczak A,
Płoski R,
Emich-Widera E,
Steinborn B
Genes (Basel)
2023 Apr 25;14(5)
doi: 10.3390/genes14050972.
PMID: 37239332Free 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
Fagan AM,
Henson RL,
Li Y,
Boerwinkle AH,
Xiong C,
Bateman RJ,
Goate A,
Ances BM,
Doran E,
Christian BT,
Lai F,
Rosas HD,
Schupf N,
Krinsky-McHale S,
Silverman W,
Lee JH,
Klunk WE,
Handen BL,
Allegri RF,
Chhatwal JP,
Day GS,
Graff-Radford NR,
Jucker M,
Levin J,
Martins RN,
Masters CL,
Mori H,
Mummery CJ,
Niimi Y,
Ringman JM,
Salloway S,
Schofield PR,
Shoji M,
Lott IT;
Alzheimer's Biomarker Consortium–Down Syndrome;
Dominantly Inherited Alzheimer Network
Lancet Neurol
2021 Aug;20(8):615-626.
doi: 10.1016/S1474-4422(21)00139-3.
PMID: 34302786Free PMC Article
Carmona-Iragui M,
Balasa M,
Benejam B,
Alcolea D,
Fernández S,
Videla L,
Sala I,
Sánchez-Saudinós MB,
Morenas-Rodriguez E,
Ribosa-Nogué R,
Illán-Gala I,
Gonzalez-Ortiz S,
Clarimón J,
Schmitt F,
Powell DK,
Bosch B,
Lladó A,
Rafii MS,
Head E,
Molinuevo JL,
Blesa R,
Videla S,
Lleó A,
Sánchez-Valle R,
Fortea J
Alzheimers Dement
2017 Nov;13(11):1251-1260.
Epub 2017 Apr 29
doi: 10.1016/j.jalz.2017.03.007.
PMID: 28463681Free PMC Article
Finetti M,
Omenetti A,
Federici S,
Caorsi R,
Gattorno M
Orphanet J Rare Dis
2016 Dec 7;11(1):167.
doi: 10.1186/s13023-016-0542-8.
PMID: 27927236Free 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
Fagan AM,
Henson RL,
Li Y,
Boerwinkle AH,
Xiong C,
Bateman RJ,
Goate A,
Ances BM,
Doran E,
Christian BT,
Lai F,
Rosas HD,
Schupf N,
Krinsky-McHale S,
Silverman W,
Lee JH,
Klunk WE,
Handen BL,
Allegri RF,
Chhatwal JP,
Day GS,
Graff-Radford NR,
Jucker M,
Levin J,
Martins RN,
Masters CL,
Mori H,
Mummery CJ,
Niimi Y,
Ringman JM,
Salloway S,
Schofield PR,
Shoji M,
Lott IT;
Alzheimer's Biomarker Consortium–Down Syndrome;
Dominantly Inherited Alzheimer Network
Lancet Neurol
2021 Aug;20(8):615-626.
doi: 10.1016/S1474-4422(21)00139-3.
PMID: 34302786Free PMC Article
Raviglione F,
Douzgou S,
Scala M,
Mingarelli A,
D'Arrigo S,
Freri E,
Darra F,
Giglio S,
Bonaglia MC,
Pantaleoni C,
Mastrangelo M,
Epifanio R,
Elia M,
Saletti V,
Morlino S,
Vari MS,
De Liso P,
Pavaine J,
Spaccini L,
Cattaneo E,
Gardella E,
Møller RS,
Marchese F,
Colonna C,
Gandioli C,
Gobbi G,
Ram D,
Palumbo O,
Carella M,
Germano M,
Tonduti D,
De Angelis D,
Caputo D,
Bergonzini P,
Novara F,
Zuffardi O,
Verrotti A,
Orsini A,
Bonuccelli A,
De Muto MC,
Trivisano M,
Vigevano F,
Granata T,
Bernardina BD,
Tranchina A,
Striano P
Seizure
2021 May;88:60-72.
Epub 2021 Mar 30
doi: 10.1016/j.seizure.2021.03.025.
PMID: 33831796
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
Finetti M,
Omenetti A,
Federici S,
Caorsi R,
Gattorno M
Orphanet J Rare Dis
2016 Dec 7;11(1):167.
doi: 10.1186/s13023-016-0542-8.
PMID: 27927236Free PMC Article
Therapy
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
Clot F,
Grabli D,
Cazeneuve C,
Roze E,
Castelnau P,
Chabrol B,
Landrieu P,
Nguyen K,
Ponsot G,
Abada M,
Doummar D,
Damier P,
Gil R,
Thobois S,
Ward AJ,
Hutchinson M,
Toutain A,
Picard F,
Camuzat A,
Fedirko E,
Sân C,
Bouteiller D,
LeGuern E,
Durr A,
Vidailhet M,
Brice A;
French Dystonia Network
Brain
2009 Jul;132(Pt 7):1753-63.
Epub 2009 Jun 2
doi: 10.1093/brain/awp084.
PMID: 19491146
Wang SL,
Yang SF,
Chen CC,
Tsai PT,
Chai CY
Kaohsiung J Med Sci
2002 Dec;18(12):622-6.
PMID: 12670038
Prognosis
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
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
Finetti M,
Omenetti A,
Federici S,
Caorsi R,
Gattorno M
Orphanet J Rare Dis
2016 Dec 7;11(1):167.
doi: 10.1186/s13023-016-0542-8.
PMID: 27927236Free PMC Article
Steinlein OK,
Conrad C,
Weidner B
Epilepsy Res
2007 Mar;73(3):245-9.
Epub 2006 Nov 28
doi: 10.1016/j.eplepsyres.2006.10.010.
PMID: 17129708
Clinical prediction guides
Paprocka J,
Jezela-Stanek A,
Śmigiel R,
Walczak A,
Mierzewska H,
Kutkowska-Kaźmierczak A,
Płoski R,
Emich-Widera E,
Steinborn B
Genes (Basel)
2023 Apr 25;14(5)
doi: 10.3390/genes14050972.
PMID: 37239332Free PMC Article
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
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
Finetti M,
Omenetti A,
Federici S,
Caorsi R,
Gattorno M
Orphanet J Rare Dis
2016 Dec 7;11(1):167.
doi: 10.1186/s13023-016-0542-8.
PMID: 27927236Free PMC Article