Etiology
Canton APM,
Tinano FR,
Guasti L,
Montenegro LR,
Ryan F,
Shears D,
de Melo ME,
Gomes LG,
Piana MP,
Brauner R,
Espino-Aguilar R,
Escribano-Muñoz A,
Paganoni A,
Read JE,
Korbonits M,
Seraphim CE,
Costa SS,
Krepischi AC,
Jorge AAL,
David A,
Kaisinger LR,
Ong KK,
Perry JRB,
Abreu AP,
Kaiser UB,
Argente J,
Mendonca BB,
Brito VN,
Howard SR,
Latronico AC
Lancet Diabetes Endocrinol
2023 Aug;11(8):545-554.
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PMID: 37385287Free PMC Article
Gonzalez JN,
Goldman S,
Carter MT,
Bain JM
Genes (Basel)
2023 May 26;14(6)
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PMID: 37372334Free PMC Article
Bayat A,
Kløvgaard M,
Johannesen KM,
Barakat TS,
Kievit A,
Montomoli M,
Parrini E,
Pietrafusa N,
Schelhaas J,
van Slegtenhorst M,
Miya K,
Guerrini R,
Tranebjærg L,
Tümer Z,
Rubboli G,
Møller RS
Epilepsy Res
2021 Feb;170:106530.
Epub 2020 Dec 9
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PMID: 33508693
De Felice C,
Leoncini S,
Signorini C,
Cortelazzo A,
Rovero P,
Durand T,
Ciccoli L,
Papini AM,
Hayek J
Autoimmun Rev
2016 Apr;15(4):411-6.
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Lubs HA,
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Am J Hum Genet
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Diagnosis
Canton APM,
Tinano FR,
Guasti L,
Montenegro LR,
Ryan F,
Shears D,
de Melo ME,
Gomes LG,
Piana MP,
Brauner R,
Espino-Aguilar R,
Escribano-Muñoz A,
Paganoni A,
Read JE,
Korbonits M,
Seraphim CE,
Costa SS,
Krepischi AC,
Jorge AAL,
David A,
Kaisinger LR,
Ong KK,
Perry JRB,
Abreu AP,
Kaiser UB,
Argente J,
Mendonca BB,
Brito VN,
Howard SR,
Latronico AC
Lancet Diabetes Endocrinol
2023 Aug;11(8):545-554.
Epub 2023 Jun 26
doi: 10.1016/S2213-8587(23)00131-6.
PMID: 37385287Free PMC Article
Gonzalez JN,
Goldman S,
Carter MT,
Bain JM
Genes (Basel)
2023 May 26;14(6)
doi: 10.3390/genes14061154.
PMID: 37372334Free PMC Article
Ramírez-Cheyne JA,
Duque GA,
Ayala-Zapata S,
Saldarriaga-Gil W,
Hagerman P,
Hagerman R,
Payán-Gómez C
Clin Genet
2019 Feb;95(2):262-267.
Epub 2018 Nov 27
doi: 10.1111/cge.13469.
PMID: 30414172
Lubs HA,
Stevenson RE,
Schwartz CE
Am J Hum Genet
2012 Apr 6;90(4):579-90.
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PMID: 22482801Free PMC Article
Ben Zeev Ghidoni B
Child Adolesc Psychiatr Clin N Am
2007 Jul;16(3):723-43.
doi: 10.1016/j.chc.2007.03.004.
PMID: 17562589
Therapy
da Silva EM,
Strufaldi MW,
Andriolo RB,
Silva LA
Cochrane Database Syst Rev
2016 Feb 5;2(2):CD008185.
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da Silva EM,
Strufaldi MW,
Andriolo RB,
Silva LA
Cochrane Database Syst Rev
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PMID: 24399699
Durand T,
De Felice C,
Signorini C,
Oger C,
Bultel-Poncé V,
Guy A,
Galano JM,
Leoncini S,
Ciccoli L,
Pecorelli A,
Valacchi G,
Hayek J
Biochimie
2013 Jan;95(1):86-90.
Epub 2012 Sep 23
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PMID: 23009927
da Silva EM,
Strufaldi MW,
Andriolo RB,
Silva LA
Cochrane Database Syst Rev
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Assies J,
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Koelman JH,
Verbeeten B Jr,
Wanders RJ,
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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,
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
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PMID: 35144014
Bayat A,
Kløvgaard M,
Johannesen KM,
Barakat TS,
Kievit A,
Montomoli M,
Parrini E,
Pietrafusa N,
Schelhaas J,
van Slegtenhorst M,
Miya K,
Guerrini R,
Tranebjærg L,
Tümer Z,
Rubboli G,
Møller RS
Epilepsy Res
2021 Feb;170:106530.
Epub 2020 Dec 9
doi: 10.1016/j.eplepsyres.2020.106530.
PMID: 33508693
da Silva EM,
Strufaldi MW,
Andriolo RB,
Silva LA
Cochrane Database Syst Rev
2016 Feb 5;2(2):CD008185.
doi: 10.1002/14651858.CD008185.pub4.
PMID: 26845288Free PMC Article
da Silva EM,
Strufaldi MW,
Andriolo RB,
Silva LA
Cochrane Database Syst Rev
2014 Jan 8;(1):CD008185.
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PMID: 24399699
Dell'Amico MC,
Vivani P,
Miccoli M,
Cecconi M,
Baggiani A
Ann Ig
2011 Jan-Feb;23(1):71-9.
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Clinical prediction guides
Parent H,
Ferranti A,
Niswender C
Trends Pharmacol Sci
2023 Oct;44(10):740-741.
Epub 2023 Jul 16
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PMID: 37460385Free PMC Article
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
Bayat A,
Kløvgaard M,
Johannesen KM,
Barakat TS,
Kievit A,
Montomoli M,
Parrini E,
Pietrafusa N,
Schelhaas J,
van Slegtenhorst M,
Miya K,
Guerrini R,
Tranebjærg L,
Tümer Z,
Rubboli G,
Møller RS
Epilepsy Res
2021 Feb;170:106530.
Epub 2020 Dec 9
doi: 10.1016/j.eplepsyres.2020.106530.
PMID: 33508693
da Silva EM,
Strufaldi MW,
Andriolo RB,
Silva LA
Cochrane Database Syst Rev
2016 Feb 5;2(2):CD008185.
doi: 10.1002/14651858.CD008185.pub4.
PMID: 26845288Free PMC Article
Pereira Fdos S,
Matte U,
Habekost CT,
de Castilhos RM,
El Husny AS,
Lourenço CM,
Vianna-Morgante AM,
Giuliani L,
Galera MF,
Honjo R,
Kim CA,
Politei J,
Vargas CR,
Jardim LB
PLoS One
2012;7(3):e34195.
Epub 2012 Mar 29
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PMID: 22479560Free PMC Article