Etiology
Hong KN,
Battikha C,
John S,
Lin A,
Bui QM,
Brambatti M,
Storm G,
Boynton K,
Medina-Hernandez D,
Garcia-Alvarez A,
Castel MA,
Garcia-Guereta L,
Diez Lopez C,
Perez-Gomez L,
Miani D,
Symanski JD,
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Garcia-Pavia P,
Adler ED
J Card Fail
2022 Apr;28(4):664-669.
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Zhang J,
Ban T,
Zhou L,
Ji H,
Yan H,
Shi Z,
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J Neurol
2020 Sep;267(9):2612-2618.
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Neuropsychology
2019 Mar;33(3):335-342.
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2014 Mar;137(Pt 3):693-706.
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J Pak Med Assoc
2013 Jan;63(1):106-10.
PMID: 23865144
Diagnosis
Hong KN,
Battikha C,
John S,
Lin A,
Bui QM,
Brambatti M,
Storm G,
Boynton K,
Medina-Hernandez D,
Garcia-Alvarez A,
Castel MA,
Garcia-Guereta L,
Diez Lopez C,
Perez-Gomez L,
Miani D,
Symanski JD,
Taylor MR,
Garcia-Pavia P,
Adler ED
J Card Fail
2022 Apr;28(4):664-669.
Epub 2021 Nov 11
doi: 10.1016/j.cardfail.2021.11.007.
PMID: 34775111
Zhang J,
Ban T,
Zhou L,
Ji H,
Yan H,
Shi Z,
Cao B,
Jiang Y,
Wang J,
Wu Y
J Neurol
2020 Sep;267(9):2612-2618.
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Masih S,
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Am J Med Genet A
2020 Feb;182(2):293-295.
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Verhamme C,
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Aubourg PA,
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de Visser M,
Poll-The BT,
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Brain
2014 Mar;137(Pt 3):693-706.
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PMID: 24480483
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Therapy
Pereira G,
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J Genet
2021;100
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Coutton C,
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Prognosis
Agrawal N,
Verma G,
Saxena D,
Kabra M,
Gupta N,
Mandal K,
Moirangthem A,
Sheth J,
Puri RD,
Bijarnia-Mahay S,
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H SV,
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Eur J Med Genet
2022 Mar;65(3):104447.
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PMID: 35144014
Steele JL,
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Elloumi HZ,
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2020 Jan;63(1):103635.
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PMID: 30797980Free PMC Article
Kampmann C,
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Clinical prediction guides
Gras M,
Heide S,
Keren B,
Valence S,
Garel C,
Whalen S,
Jansen AC,
Keymolen K,
Stouffs K,
Jennesson M,
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2024 Jan 19;61(2):103-108.
doi: 10.1136/jmg-2023-109203.
PMID: 37879892
Agrawal N,
Verma G,
Saxena D,
Kabra M,
Gupta N,
Mandal K,
Moirangthem A,
Sheth J,
Puri RD,
Bijarnia-Mahay S,
Kapoor S,
Danda S,
H SV,
Datar CA,
Ranganath P,
Shukla A,
Dalal A,
Srivastava P,
Devi RR,
Phadke SR
Eur J Med Genet
2022 Mar;65(3):104447.
Epub 2022 Feb 8
doi: 10.1016/j.ejmg.2022.104447.
PMID: 35144014
Steele JL,
Morrow MM,
Sarnat HB,
Alkhunaizi E,
Brandt T,
Chitayat DA,
DeFilippo CP,
Douglas GV,
Dubbs HA,
Elloumi HZ,
Glassford MR,
Hannibal MC,
Héron B,
Kim LE,
Marco EJ,
Mignot C,
Monaghan KG,
Myers KA,
Parikh S,
Quinonez SC,
Rajabi F,
Shankar SP,
Shinawi MS,
van de Kamp JJP,
Veerapandiyan A,
Waldman AT,
Graf WD
Pediatr Neurol
2022 Jan;126:65-73.
Epub 2021 Oct 18
doi: 10.1016/j.pediatrneurol.2021.10.008.
PMID: 34740135
Iijima M,
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Zhang J,
Ban T,
Zhou L,
Ji H,
Yan H,
Shi Z,
Cao B,
Jiang Y,
Wang J,
Wu Y
J Neurol
2020 Sep;267(9):2612-2618.
Epub 2020 May 9
doi: 10.1007/s00415-020-09889-y.
PMID: 32388833