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
Currie KB,
Tadisina KK,
Mackinnon SE
JAMA
2022 Jun 28;327(24):2434-2445.
doi: 10.1001/jama.2022.8481.
PMID: 35762992
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
Hamilton MJ,
Suri M
Adv Genet
2020;105:137-174.
Epub 2020 May 26
doi: 10.1016/bs.adgen.2020.03.002.
PMID: 32560786
Cereda A,
Carey JC
Orphanet J Rare Dis
2012 Oct 23;7:81.
doi: 10.1186/1750-1172-7-81.
PMID: 23088440Free PMC Article
Diagnosis
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
Currie KB,
Tadisina KK,
Mackinnon SE
JAMA
2022 Jun 28;327(24):2434-2445.
doi: 10.1001/jama.2022.8481.
PMID: 35762992
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
Mastrangelo M,
Scheffer IE,
Bramswig NC,
Nair LD,
Myers CT,
Dentici ML,
Korenke GC,
Schoch K,
Campeau PM,
White SM,
Shashi V,
Kansagra S,
Van Essen AJ,
Leuzzi V
Epileptic Disord
2016 Jun 1;18(2):123-36.
doi: 10.1684/epd.2016.0830.
PMID: 27267311
Cereda A,
Carey JC
Orphanet J Rare Dis
2012 Oct 23;7:81.
doi: 10.1186/1750-1172-7-81.
PMID: 23088440Free PMC Article
Therapy
Nadar MS,
Alotaibi N,
Manee F
BMJ Open
2023 Nov 28;13(11):e076961.
doi: 10.1136/bmjopen-2023-076961.
PMID: 38016794Free PMC Article
Currie KB,
Tadisina KK,
Mackinnon SE
JAMA
2022 Jun 28;327(24):2434-2445.
doi: 10.1001/jama.2022.8481.
PMID: 35762992
Beleckas CM,
Gerull W,
Wright M,
Guattery J,
Calfee RP
J Hand Surg Am
2019 Mar;44(3):186-191.e1.
Epub 2018 Dec 18
doi: 10.1016/j.jhsa.2018.10.029.
PMID: 30577995Free PMC Article
Mastrangelo M,
Scheffer IE,
Bramswig NC,
Nair LD,
Myers CT,
Dentici ML,
Korenke GC,
Schoch K,
Campeau PM,
White SM,
Shashi V,
Kansagra S,
Van Essen AJ,
Leuzzi V
Epileptic Disord
2016 Jun 1;18(2):123-36.
doi: 10.1684/epd.2016.0830.
PMID: 27267311
Croog AS,
Rettig ME
Bull NYU Hosp Jt Dis
2007;65(1):78-86.
PMID: 17539765
Prognosis
Klaniewska M,
Bolanowska-Tyszko A,
Latos-Bielenska A,
Jezela-Stanek A,
Szczaluba K,
Krajewska-Walasek M,
Ciara E,
Pelc M,
Jurkiewicz D,
Stawinski P,
Zubkiewicz-Kucharska A,
Rydzanicz M,
Ploski R,
Smigiel R
Mol Genet Genomic Med
2023 Dec;11(12):e2265.
Epub 2023 Sep 1
doi: 10.1002/mgg3.2265.
PMID: 37658610Free PMC Article
Choi N,
Kim HY,
Lim BC,
Chae JH,
Kim SY,
Ko JM
Mol Genet Genomic Med
2021 Oct;9(10):e1791.
Epub 2021 Aug 24
doi: 10.1002/mgg3.1791.
PMID: 34427995Free 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
Cereda A,
Carey JC
Orphanet J Rare Dis
2012 Oct 23;7:81.
doi: 10.1186/1750-1172-7-81.
PMID: 23088440Free PMC Article
Croog AS,
Rettig ME
Bull NYU Hosp Jt Dis
2007;65(1):78-86.
PMID: 17539765
Clinical prediction guides
Currie KB,
Tadisina KK,
Mackinnon SE
JAMA
2022 Jun 28;327(24):2434-2445.
doi: 10.1001/jama.2022.8481.
PMID: 35762992
Isidor B,
Ebstein F,
Hurst A,
Vincent M,
Bader I,
Rudy NL,
Cogne B,
Mayr J,
Brehm A,
Bupp C,
Warren K,
Bacino CA,
Gerard A,
Ranells JD,
Metcalfe KA,
van Bever Y,
Jiang YH,
Mendelssohn BA,
Cope H,
Rosenfeld JA,
Blackburn PR,
Goodenberger ML,
Kearney HM,
Kennedy J,
Scurr I,
Szczaluba K,
Ploski R,
de Saint Martin A,
Alembik Y,
Piton A,
Bruel AL,
Thauvin-Robinet C,
Strong A,
Diderich KEM,
Bourgeois D,
Dahan K,
Vignard V,
Bonneau D,
Colin E,
Barth M,
Camby C,
Baujat G,
Briceño I,
Gómez A,
Deb W,
Conrad S,
Besnard T,
Bézieau S,
Krüger E,
Küry S,
Stankiewicz P
Genet Med
2022 Jan;24(1):179-191.
Epub 2021 Nov 30
doi: 10.1016/j.gim.2021.09.005.
PMID: 34906456
Choi N,
Kim HY,
Lim BC,
Chae JH,
Kim SY,
Ko JM
Mol Genet Genomic Med
2021 Oct;9(10):e1791.
Epub 2021 Aug 24
doi: 10.1002/mgg3.1791.
PMID: 34427995Free PMC Article
Mahdi SS,
Jafri HA,
Allana R,
Amenta F,
Khawaja M,
Qasim SSB
Int J Environ Res Public Health
2021 Jan 28;18(3)
doi: 10.3390/ijerph18031162.
PMID: 33525609Free PMC Article
Mastrangelo M,
Scheffer IE,
Bramswig NC,
Nair LD,
Myers CT,
Dentici ML,
Korenke GC,
Schoch K,
Campeau PM,
White SM,
Shashi V,
Kansagra S,
Van Essen AJ,
Leuzzi V
Epileptic Disord
2016 Jun 1;18(2):123-36.
doi: 10.1684/epd.2016.0830.
PMID: 27267311