Etiology
Dutra M,
da Silva SC,
Beggiora PDS,
Santos MV,
Machado HR,
Lopes LDS
J Pediatr (Rio J)
2023 May-Jun;99(3):228-234.
Epub 2022 Dec 6
doi: 10.1016/j.jped.2022.10.008.
PMID: 36493803Free PMC Article
Wallmeier J,
Dallmayer M,
Omran H
Am J Med Genet C Semin Med Genet
2022 Mar;190(1):47-56.
Epub 2022 Apr 26
doi: 10.1002/ajmg.c.31972.
PMID: 35470956
Duy PQ,
Weise SC,
Marini C,
Li XJ,
Liang D,
Dahl PJ,
Ma S,
Spajic A,
Dong W,
Juusola J,
Kiziltug E,
Kundishora AJ,
Koundal S,
Pedram MZ,
Torres-Fernández LA,
Händler K,
De Domenico E,
Becker M,
Ulas T,
Juranek SA,
Cuevas E,
Hao LT,
Jux B,
Sousa AMM,
Liu F,
Kim SK,
Li M,
Yang Y,
Takeo Y,
Duque A,
Nelson-Williams C,
Ha Y,
Selvaganesan K,
Robert SM,
Singh AK,
Allington G,
Furey CG,
Timberlake AT,
Reeves BC,
Smith H,
Dunbar A,
DeSpenza T Jr,
Goto J,
Marlier A,
Moreno-De-Luca A,
Yu X,
Butler WE,
Carter BS,
Lake EMR,
Constable RT,
Rakic P,
Lin H,
Deniz E,
Benveniste H,
Malvankar NS,
Estrada-Veras JI,
Walsh CA,
Alper SL,
Schultze JL,
Paeschke K,
Doetzlhofer A,
Wulczyn FG,
Jin SC,
Lifton RP,
Sestan N,
Kolanus W,
Kahle KT
Nat Neurosci
2022 Apr;25(4):458-473.
Epub 2022 Apr 4
doi: 10.1038/s41593-022-01043-3.
PMID: 35379995Free PMC Article
Peiro JL,
Fabbro MD
Childs Nerv Syst
2020 Aug;36(8):1697-1712.
Epub 2020 Jun 29
doi: 10.1007/s00381-020-04738-9.
PMID: 32601902
Koktekir BE,
Koktekir E,
Ozcan G,
Karabagli H
Childs Nerv Syst
2019 Aug;35(8):1381-1384.
Epub 2019 May 21
doi: 10.1007/s00381-019-04205-0.
PMID: 31115645
Diagnosis
Brodsky MC,
Aul BJ,
Daniels DJ,
El-Dairi M
Surv Ophthalmol
2023 May-Jun;68(3):556-561.
Epub 2022 Feb 15
doi: 10.1016/j.survophthal.2022.02.003.
PMID: 35181281
Peiro JL,
Fabbro MD
Childs Nerv Syst
2020 Aug;36(8):1697-1712.
Epub 2020 Jun 29
doi: 10.1007/s00381-020-04738-9.
PMID: 32601902
Etchegaray A,
Juarez-Peñalva S,
Petracchi F,
Igarzabal L
Childs Nerv Syst
2020 Aug;36(8):1645-1660.
Epub 2020 Jan 31
doi: 10.1007/s00381-020-04526-5.
PMID: 32006096
Jansen AC,
Keymolen K
Handb Clin Neurol
2019;162:105-132.
doi: 10.1016/B978-0-444-64029-1.00005-9.
PMID: 31324307
Kahle KT,
Kulkarni AV,
Limbrick DD Jr,
Warf BC
Lancet
2016 Feb 20;387(10020):788-99.
Epub 2015 Aug 6
doi: 10.1016/S0140-6736(15)60694-8.
PMID: 26256071
Therapy
Greenberg ABW,
Mehta NH,
Allington G,
Jin SC,
Moreno-De-Luca A,
Kahle KT
JAMA Netw Open
2023 Nov 1;6(11):e2343384.
doi: 10.1001/jamanetworkopen.2023.43384.
PMID: 37991765Free PMC Article
Arrington CN,
Ware AL,
Ahmed Y,
Kulesz PA,
Dennis M,
Fletcher JM
Neuropsychol Rev
2016 Dec;26(4):329-339.
Epub 2016 Nov 5
doi: 10.1007/s11065-016-9335-z.
PMID: 27815765Free PMC Article
Kalyvas AV,
Kalamatianos T,
Pantazi M,
Lianos GD,
Stranjalis G,
Alexiou GA
Neurosurg Focus
2016 Nov;41(5):E3.
doi: 10.3171/2016.8.FOCUS16280.
PMID: 27798989
Howard BM,
Sribnick EA,
Dhall SS
J Clin Neurosci
2014 Dec;21(12):2242-4.
Epub 2014 Jul 25
doi: 10.1016/j.jocn.2014.05.014.
PMID: 25070631
Mitra DK,
Srinivas M
Indian J Pediatr
1997 Nov-Dec;64(6 Suppl):15-21.
PMID: 11129876
Prognosis
Dutra M,
da Silva SC,
Beggiora PDS,
Santos MV,
Machado HR,
Lopes LDS
J Pediatr (Rio J)
2023 May-Jun;99(3):228-234.
Epub 2022 Dec 6
doi: 10.1016/j.jped.2022.10.008.
PMID: 36493803Free PMC Article
Darbà J,
Marsà A
Expert Rev Pharmacoecon Outcomes Res
2022 Jul;22(5):877-881.
Epub 2022 Feb 2
doi: 10.1080/14737167.2022.2035724.
PMID: 35085473
Kundishora AJ,
Singh AK,
Allington G,
Duy PQ,
Ryou J,
Alper SL,
Jin SC,
Kahle KT
Childs Nerv Syst
2021 Nov;37(11):3325-3340.
Epub 2021 Jul 7
doi: 10.1007/s00381-021-05230-8.
PMID: 34232380
McKnight I,
Hart C,
Park IH,
Shim JW
Exp Neurol
2021 Jan;335:113523.
Epub 2020 Nov 4
doi: 10.1016/j.expneurol.2020.113523.
PMID: 33157092Free PMC Article
Etchegaray A,
Juarez-Peñalva S,
Petracchi F,
Igarzabal L
Childs Nerv Syst
2020 Aug;36(8):1645-1660.
Epub 2020 Jan 31
doi: 10.1007/s00381-020-04526-5.
PMID: 32006096
Clinical prediction guides
Sira LB,
Kozyrev DA,
Bashat DB,
Constantini S,
Roth J,
Shiran SI
Neurol India
2021 Nov-Dec;69(Supplement):S298-S304.
doi: 10.4103/0028-3886.332286.
PMID: 35102980
Ludwig HC,
Dreha-Kulaczewski S,
Bock HC
J Neurosci Res
2021 Nov;99(11):2804-2821.
Epub 2021 Jul 29
doi: 10.1002/jnr.24935.
PMID: 34323313
McKnight I,
Hart C,
Park IH,
Shim JW
Exp Neurol
2021 Jan;335:113523.
Epub 2020 Nov 4
doi: 10.1016/j.expneurol.2020.113523.
PMID: 33157092Free PMC Article
Idowu OE,
Balogun MM
Childs Nerv Syst
2014 Feb;30(2):327-30.
Epub 2013 Aug 1
doi: 10.1007/s00381-013-2222-5.
PMID: 23904039
Hommet C,
Billard C,
Gillet P,
Barthez MA,
Lourmiere JM,
Santini JJ,
de Toffol B,
Corcia P,
Autret A
J Child Neurol
1999 Mar;14(3):144-50.
doi: 10.1177/088307389901400302.
PMID: 10190263