Etiology
Shashi V,
Schoch K,
Ganetzky R,
Kranz PG,
Sondheimer N,
Markert ML,
Cope H,
Sadeghpour A,
Roehrs P,
Arbogast T,
Muraresku C;
Undiagnosed Diseases Network,
Tyndall AV,
Esser MJ,
Woodward KE,
Ping-Yee Au B,
Parboosingh JS,
Lamont RE,
Bernier FP,
Wright NAM,
Benseler SM,
Parsons SJ,
El-Dairi M,
Smith EC,
Valdez P,
Tennison M,
Innes AM,
Davis EE
Genet Med
2023 Sep;25(9):100897.
Epub 2023 May 13
doi: 10.1016/j.gim.2023.100897.
PMID: 37191094Free PMC Article
Wu L,
Peng H,
Jiang Y,
He L,
Jiang L,
Hu Y
Int J Dev Neurosci
2022 Aug;82(5):447-457.
Epub 2022 Jun 22
doi: 10.1002/jdn.10201.
PMID: 35688614
Song Y,
Li S,
Xiao W,
Shen J,
Ma W,
Wang Q,
Yang H,
Liu G,
Hong Y,
Li P,
Yang S
Med Sci Monit
2021 Jan 3;27:e928374.
doi: 10.12659/MSM.928374.
PMID: 33388740Free PMC Article
Jan F,
Jafri SK,
Ibrahim SH
J Coll Physicians Surg Pak
2019 Jul;29(7):649-653.
doi: 10.29271/jcpsp.2019.07.649.
PMID: 31253217
Schwartz KL,
Richardson SE,
MacGregor D,
Mahant S,
Raghuram K,
Bitnun A
J Pediatr
2019 Feb;205:130-137.
Epub 2018 Nov 6
doi: 10.1016/j.jpeds.2018.09.036.
PMID: 30413311
Diagnosis
Mizuguchi M,
Ichiyama T,
Imataka G,
Okumura A,
Goto T,
Sakuma H,
Takanashi JI,
Murayama K,
Yamagata T,
Yamanouchi H,
Fukuda T,
Maegaki Y
Brain Dev
2021 Jan;43(1):2-31.
Epub 2020 Aug 20
doi: 10.1016/j.braindev.2020.08.001.
PMID: 32829972
Levine JM,
Ahsan N,
Ho E,
Santoro JD
Mult Scler Relat Disord
2020 Aug;43:102194.
Epub 2020 May 15
doi: 10.1016/j.msard.2020.102194.
PMID: 32426208Free PMC Article
Jan F,
Jafri SK,
Ibrahim SH
J Coll Physicians Surg Pak
2019 Jul;29(7):649-653.
doi: 10.29271/jcpsp.2019.07.649.
PMID: 31253217
Schwartz KL,
Richardson SE,
MacGregor D,
Mahant S,
Raghuram K,
Bitnun A
J Pediatr
2019 Feb;205:130-137.
Epub 2018 Nov 6
doi: 10.1016/j.jpeds.2018.09.036.
PMID: 30413311
Aneja S,
Sharma S
Indian J Pediatr
2019 Jan;86(1):70-75.
Epub 2018 Sep 19
doi: 10.1007/s12098-018-2775-0.
PMID: 30232787
Therapy
Hosie PH,
Lim C,
Scott TRD,
Cardamone M,
Farrar MA,
Frith C,
Andrews PI,
Pinner J,
Pillai S
Brain Dev
2023 Aug;45(7):401-407.
Epub 2023 Mar 24
doi: 10.1016/j.braindev.2023.03.002.
PMID: 36967317
Garg RK
Neurol India
2020 May-Jun;68(3):560-572.
doi: 10.4103/0028-3886.289000.
PMID: 32643664
Aneja S,
Sharma S
Indian J Pediatr
2019 Jan;86(1):70-75.
Epub 2018 Sep 19
doi: 10.1007/s12098-018-2775-0.
PMID: 30232787
Okumura A,
Mizuguchi M,
Kidokoro H,
Tanaka M,
Abe S,
Hosoya M,
Aiba H,
Maegaki Y,
Yamamoto H,
Tanabe T,
Noda E,
Imataka G,
Kurahashi H
Brain Dev
2009 Mar;31(3):221-7.
Epub 2008 May 5
doi: 10.1016/j.braindev.2008.03.005.
PMID: 18456443
Mizuguchi M,
Yamanouchi H,
Ichiyama T,
Shiomi M
Acta Neurol Scand Suppl
2007;186:45-56.
PMID: 17784537
Prognosis
Qin N,
Wang J,
Peng X,
Wang L
Expert Rev Neurother
2023 Jul-Dec;23(7):641-650.
Epub 2023 Jun 13
doi: 10.1080/14737175.2023.2224503.
PMID: 37309119
Mizuguchi M,
Ichiyama T,
Imataka G,
Okumura A,
Goto T,
Sakuma H,
Takanashi JI,
Murayama K,
Yamagata T,
Yamanouchi H,
Fukuda T,
Maegaki Y
Brain Dev
2021 Jan;43(1):2-31.
Epub 2020 Aug 20
doi: 10.1016/j.braindev.2020.08.001.
PMID: 32829972
Levine JM,
Ahsan N,
Ho E,
Santoro JD
Mult Scler Relat Disord
2020 Aug;43:102194.
Epub 2020 May 15
doi: 10.1016/j.msard.2020.102194.
PMID: 32426208Free PMC Article
Jan F,
Jafri SK,
Ibrahim SH
J Coll Physicians Surg Pak
2019 Jul;29(7):649-653.
doi: 10.29271/jcpsp.2019.07.649.
PMID: 31253217
Schwartz KL,
Richardson SE,
MacGregor D,
Mahant S,
Raghuram K,
Bitnun A
J Pediatr
2019 Feb;205:130-137.
Epub 2018 Nov 6
doi: 10.1016/j.jpeds.2018.09.036.
PMID: 30413311
Clinical prediction guides
Shashi V,
Schoch K,
Ganetzky R,
Kranz PG,
Sondheimer N,
Markert ML,
Cope H,
Sadeghpour A,
Roehrs P,
Arbogast T,
Muraresku C;
Undiagnosed Diseases Network,
Tyndall AV,
Esser MJ,
Woodward KE,
Ping-Yee Au B,
Parboosingh JS,
Lamont RE,
Bernier FP,
Wright NAM,
Benseler SM,
Parsons SJ,
El-Dairi M,
Smith EC,
Valdez P,
Tennison M,
Innes AM,
Davis EE
Genet Med
2023 Sep;25(9):100897.
Epub 2023 May 13
doi: 10.1016/j.gim.2023.100897.
PMID: 37191094Free PMC Article
Wu L,
Peng H,
Jiang Y,
He L,
Jiang L,
Hu Y
Int J Dev Neurosci
2022 Aug;82(5):447-457.
Epub 2022 Jun 22
doi: 10.1002/jdn.10201.
PMID: 35688614
Aksoy E,
Öztoprak Ü,
Çelik H,
Özdemir FMA,
Özkan M,
Kayılıoğlu H,
Danış A,
Kucur Ö,
Kesici S,
Uysal Yazıcı M,
Azapağası E,
Taşcı Yıldız Y,
Ceylan N,
Şenel S,
Yüksel D
Turk J Med Sci
2021 Apr 30;51(2):706-715.
doi: 10.3906/sag-2102-47.
PMID: 33754655Free PMC Article
Song Y,
Li S,
Xiao W,
Shen J,
Ma W,
Wang Q,
Yang H,
Liu G,
Hong Y,
Li P,
Yang S
Med Sci Monit
2021 Jan 3;27:e928374.
doi: 10.12659/MSM.928374.
PMID: 33388740Free PMC Article
Schwartz KL,
Richardson SE,
MacGregor D,
Mahant S,
Raghuram K,
Bitnun A
J Pediatr
2019 Feb;205:130-137.
Epub 2018 Nov 6
doi: 10.1016/j.jpeds.2018.09.036.
PMID: 30413311