Etiology
Lui JC,
Baron J
J Clin Endocrinol Metab
2024 Jan 18;109(2):312-320.
doi: 10.1210/clinem/dgad420.
PMID: 37450557Free PMC Article
Sinnett SE,
Boyle E,
Lyons C,
Gray SJ
Brain
2021 Nov 29;144(10):3005-3019.
doi: 10.1093/brain/awab182.
PMID: 33950254Free PMC Article
Eichler F,
Duncan C,
Musolino PL,
Orchard PJ,
De Oliveira S,
Thrasher AJ,
Armant M,
Dansereau C,
Lund TC,
Miller WP,
Raymond GV,
Sankar R,
Shah AJ,
Sevin C,
Gaspar HB,
Gissen P,
Amartino H,
Bratkovic D,
Smith NJC,
Paker AM,
Shamir E,
O'Meara T,
Davidson D,
Aubourg P,
Williams DA
N Engl J Med
2017 Oct 26;377(17):1630-1638.
Epub 2017 Oct 4
doi: 10.1056/NEJMoa1700554.
PMID: 28976817Free PMC Article
Hu H,
Haas SA,
Chelly J,
Van Esch H,
Raynaud M,
de Brouwer AP,
Weinert S,
Froyen G,
Frints SG,
Laumonnier F,
Zemojtel T,
Love MI,
Richard H,
Emde AK,
Bienek M,
Jensen C,
Hambrock M,
Fischer U,
Langnick C,
Feldkamp M,
Wissink-Lindhout W,
Lebrun N,
Castelnau L,
Rucci J,
Montjean R,
Dorseuil O,
Billuart P,
Stuhlmann T,
Shaw M,
Corbett MA,
Gardner A,
Willis-Owen S,
Tan C,
Friend KL,
Belet S,
van Roozendaal KE,
Jimenez-Pocquet M,
Moizard MP,
Ronce N,
Sun R,
O'Keeffe S,
Chenna R,
van Bömmel A,
Göke J,
Hackett A,
Field M,
Christie L,
Boyle J,
Haan E,
Nelson J,
Turner G,
Baynam G,
Gillessen-Kaesbach G,
Müller U,
Steinberger D,
Budny B,
Badura-Stronka M,
Latos-Bieleńska A,
Ousager LB,
Wieacker P,
Rodríguez Criado G,
Bondeson ML,
Annerén G,
Dufke A,
Cohen M,
Van Maldergem L,
Vincent-Delorme C,
Echenne B,
Simon-Bouy B,
Kleefstra T,
Willemsen M,
Fryns JP,
Devriendt K,
Ullmann R,
Vingron M,
Wrogemann K,
Wienker TF,
Tzschach A,
van Bokhoven H,
Gecz J,
Jentsch TJ,
Chen W,
Ropers HH,
Kalscheuer VM
Mol Psychiatry
2016 Jan;21(1):133-48.
Epub 2015 Feb 3
doi: 10.1038/mp.2014.193.
PMID: 25644381Free PMC Article
Storey E
Semin Neurol
2014 Jul;34(3):280-92.
Epub 2014 Sep 5
doi: 10.1055/s-0034-1386766.
PMID: 25192506
Diagnosis
Pascual-Alonso A,
Martínez-Monseny AF,
Xiol C,
Armstrong J
Int J Mol Sci
2021 Sep 4;22(17)
doi: 10.3390/ijms22179610.
PMID: 34502518Free PMC Article
D'Avanzo F,
Rigon L,
Zanetti A,
Tomanin R
Int J Mol Sci
2020 Feb 13;21(4)
doi: 10.3390/ijms21041258.
PMID: 32070051Free PMC Article
Neri G,
Schwartz CE,
Lubs HA,
Stevenson RE
Am J Med Genet A
2018 Jun;176(6):1375-1388.
Epub 2018 Apr 25
doi: 10.1002/ajmg.a.38710.
PMID: 29696803Free PMC Article
Cappa M,
Bizzarri C,
Vollono C,
Petroni A,
Banni S
Endocr Dev
2011;20:149-160.
Epub 2010 Dec 16
doi: 10.1159/000321236.
PMID: 21164268
Torres RJ,
Puig JG
Orphanet J Rare Dis
2007 Dec 8;2:48.
doi: 10.1186/1750-1172-2-48.
PMID: 18067674Free PMC Article
Therapy
Qian J,
Guan X,
Xie B,
Xu C,
Niu J,
Tang X,
Li CH,
Colecraft HM,
Jaenisch R,
Liu XS
Sci Transl Med
2023 Jan 18;15(679):eadd4666.
doi: 10.1126/scitranslmed.add4666.
PMID: 36652535
Sinnett SE,
Boyle E,
Lyons C,
Gray SJ
Brain
2021 Nov 29;144(10):3005-3019.
doi: 10.1093/brain/awab182.
PMID: 33950254Free PMC Article
Sonoda H,
Morimoto H,
Yoden E,
Koshimura Y,
Kinoshita M,
Golovina G,
Takagi H,
Yamamoto R,
Minami K,
Mizoguchi A,
Tachibana K,
Hirato T,
Takahashi K
Mol Ther
2018 May 2;26(5):1366-1374.
Epub 2018 Mar 6
doi: 10.1016/j.ymthe.2018.02.032.
PMID: 29606503Free PMC Article
Kyle SM,
Vashi N,
Justice MJ
Open Biol
2018 Feb;8(2)
doi: 10.1098/rsob.170216.
PMID: 29445033Free PMC Article
Eichler F,
Duncan C,
Musolino PL,
Orchard PJ,
De Oliveira S,
Thrasher AJ,
Armant M,
Dansereau C,
Lund TC,
Miller WP,
Raymond GV,
Sankar R,
Shah AJ,
Sevin C,
Gaspar HB,
Gissen P,
Amartino H,
Bratkovic D,
Smith NJC,
Paker AM,
Shamir E,
O'Meara T,
Davidson D,
Aubourg P,
Williams DA
N Engl J Med
2017 Oct 26;377(17):1630-1638.
Epub 2017 Oct 4
doi: 10.1056/NEJMoa1700554.
PMID: 28976817Free PMC Article
Prognosis
De Feyter S,
Beyens A,
Callewaert B
J Inherit Metab Dis
2023 Mar;46(2):163-173.
Epub 2023 Feb 3
doi: 10.1002/jimd.12590.
PMID: 36692329
Tian MQ,
Liu XR,
Lin SM,
Wang J,
Luo S,
Gao LD,
Chen XB,
Liang XY,
Liu ZG,
He N,
Yi YH,
Liao WP;
China Epilepsy Gene 1.0 Project
CNS Neurosci Ther
2023 Feb;29(2):727-735.
Epub 2022 Dec 13
doi: 10.1111/cns.14057.
PMID: 36514184Free PMC Article
Mao C,
Li J,
Huang X,
Wang J,
Chu S,
Zhang Y,
Dong L,
Liu C,
Lu L,
Qiu L,
Chen W,
Peng B,
Cui L,
Gao J
Neurol Sci
2022 May;43(5):3255-3263.
Epub 2022 Jan 8
doi: 10.1007/s10072-021-05859-y.
PMID: 34997422
LaDuca H,
Farwell KD,
Vuong H,
Lu HM,
Mu W,
Shahmirzadi L,
Tang S,
Chen J,
Bhide S,
Chao EC
PLoS One
2017;12(2):e0170843.
Epub 2017 Feb 2
doi: 10.1371/journal.pone.0170843.
PMID: 28152038Free PMC Article
Lisik MZ,
Sieron AL
Med Sci Monit
2008 Nov;14(11):RA221-9.
PMID: 18971887
Clinical prediction guides
Parent H,
Ferranti A,
Niswender C
Trends Pharmacol Sci
2023 Oct;44(10):740-741.
Epub 2023 Jul 16
doi: 10.1016/j.tips.2023.06.008.
PMID: 37460385Free PMC Article
Sandweiss AJ,
Brandt VL,
Zoghbi HY
Lancet Neurol
2020 Aug;19(8):689-698.
doi: 10.1016/S1474-4422(20)30217-9.
PMID: 32702338
Piché J,
Van Vliet PP,
Pucéat M,
Andelfinger G
Cell Cycle
2019 Nov;18(21):2828-2848.
Epub 2019 Sep 13
doi: 10.1080/15384101.2019.1658476.
PMID: 31516082Free PMC Article
Eichler F,
Duncan C,
Musolino PL,
Orchard PJ,
De Oliveira S,
Thrasher AJ,
Armant M,
Dansereau C,
Lund TC,
Miller WP,
Raymond GV,
Sankar R,
Shah AJ,
Sevin C,
Gaspar HB,
Gissen P,
Amartino H,
Bratkovic D,
Smith NJC,
Paker AM,
Shamir E,
O'Meara T,
Davidson D,
Aubourg P,
Williams DA
N Engl J Med
2017 Oct 26;377(17):1630-1638.
Epub 2017 Oct 4
doi: 10.1056/NEJMoa1700554.
PMID: 28976817Free PMC Article
LaDuca H,
Farwell KD,
Vuong H,
Lu HM,
Mu W,
Shahmirzadi L,
Tang S,
Chen J,
Bhide S,
Chao EC
PLoS One
2017;12(2):e0170843.
Epub 2017 Feb 2
doi: 10.1371/journal.pone.0170843.
PMID: 28152038Free PMC Article