Etiology
Cioclu MC,
Mosca I,
Ambrosino P,
Puzo D,
Bayat A,
Wortmann SB,
Koch J,
Strehlow V,
Shirai K,
Matsumoto N,
Sanders SJ,
Michaud V,
Legendre M,
Riva A,
Striano P,
Muhle H,
Pendziwiat M,
Lesca G,
Mangano GD,
Nardello R;
KCNT2-study group,
Lemke JR,
Møller RS,
Soldovieri MV,
Rubboli G,
Taglialatela M
Ann Neurol
2023 Aug;94(2):332-349.
Epub 2023 May 22
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PMID: 37062836
Harris HK,
Nakayama T,
Lai J,
Zhao B,
Argyrou N,
Gubbels CS,
Soucy A,
Genetti CA,
Suslovitch V,
Rodan LH,
Tiller GE,
Lesca G,
Gripp KW,
Asadollahi R,
Hamosh A,
Applegate CD,
Turnpenny PD,
Simon MEH,
Volker-Touw CML,
Gassen KLIV,
Binsbergen EV,
Pfundt R,
Gardeitchik T,
Vries BBA,
Immken LL,
Buchanan C,
Willing M,
Toler TL,
Fassi E,
Baker L,
Vansenne F,
Wang X,
Ambrus JL Jr,
Fannemel M,
Posey JE,
Agolini E,
Novelli A,
Rauch A,
Boonsawat P,
Fagerberg CR,
Larsen MJ,
Kibaek M,
Labalme A,
Poisson A,
Payne KK,
Walsh LE,
Aldinger KA,
Balciuniene J,
Skraban C,
Gray C,
Murrell J,
Bupp CP,
Pascolini G,
Grammatico P,
Broly M,
Küry S,
Nizon M,
Rasool IG,
Zahoor MY,
Kraus C,
Reis A,
Iqbal M,
Uguen K,
Audebert-Bellanger S,
Ferec C,
Redon S,
Baker J,
Wu Y,
Zampino G,
Syrbe S,
Brosse I,
Jamra RA,
Dobyns WB,
Cohen LL,
Blomhoff A,
Mignot C,
Keren B,
Courtin T,
Agrawal PB,
Beggs AH,
Yu TW
Genet Med
2021 Jun;23(6):1028-1040.
Epub 2021 Mar 3
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Hedrich UBS,
Lauxmann S,
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Epilepsia
2019 Dec;60 Suppl 3:S68-S76.
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Zollino M,
Zweier C,
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Sweetser DA,
Alaimo J,
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Cody J,
Elsea SH,
Giurgea I,
Macchiaiolo M,
Smigiel R,
Thibert RL,
Benoist I,
Clayton-Smith J,
De Winter CF,
Deckers S,
Gandhi A,
Huisman S,
Kempink D,
Kruisinga F,
Lamacchia V,
Marangi G,
Menke L,
Mulder P,
Nordgren A,
Renieri A,
Routledge S,
Saunders CJ,
Stembalska A,
Van Balkom H,
Whalen S,
Hennekam RC
Clin Genet
2019 Apr;95(4):462-478.
Epub 2019 Feb 18
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PMID: 30677142
Grozeva D,
Carss K,
Spasic-Boskovic O,
Tejada MI,
Gecz J,
Shaw M,
Corbett M,
Haan E,
Thompson E,
Friend K,
Hussain Z,
Hackett A,
Field M,
Renieri A,
Stevenson R,
Schwartz C,
Floyd JA,
Bentham J,
Cosgrove C,
Keavney B,
Bhattacharya S;
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UK10K Consortium;
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Hurles M,
Raymond FL
Hum Mutat
2015 Dec;36(12):1197-204.
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Diagnosis
Spahiu L,
Behluli E,
Grajçevci-Uka V,
Liehr T,
Temaj G
J Mother Child
2022 Mar 1;26(1):118-123.
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Zollino M,
Zweier C,
Van Balkom ID,
Sweetser DA,
Alaimo J,
Bijlsma EK,
Cody J,
Elsea SH,
Giurgea I,
Macchiaiolo M,
Smigiel R,
Thibert RL,
Benoist I,
Clayton-Smith J,
De Winter CF,
Deckers S,
Gandhi A,
Huisman S,
Kempink D,
Kruisinga F,
Lamacchia V,
Marangi G,
Menke L,
Mulder P,
Nordgren A,
Renieri A,
Routledge S,
Saunders CJ,
Stembalska A,
Van Balkom H,
Whalen S,
Hennekam RC
Clin Genet
2019 Apr;95(4):462-478.
Epub 2019 Feb 18
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PMID: 30677142
Ciaccio C,
Fontana L,
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Indian Pediatr
2011 Jun;48(6):479-81.
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Therapy
Neul JL,
Percy AK,
Benke TA,
Berry-Kravis EM,
Glaze DG,
Marsh ED,
Lin T,
Stankovic S,
Bishop KM,
Youakim JM
Nat Med
2023 Jun;29(6):1468-1475.
Epub 2023 Jun 8
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Elhawary NA,
AlJahdali IA,
Abumansour IS,
Elhawary EN,
Gaboon N,
Dandini M,
Madkhali A,
Alosaimi W,
Alzahrani A,
Aljohani F,
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Hum Genomics
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Staudt GE,
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J Cardiothorac Vasc Anesth
2021 Jan;35(1):176-186.
Epub 2020 Jan 21
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PMID: 32127269
Di Stefano V,
Rispoli MG,
Pellegrino N,
Graziosi A,
Rotondo E,
Napoli C,
Pietrobon D,
Brighina F,
Parisi P
J Neurol Neurosurg Psychiatry
2020 Jul;91(7):764-771.
Epub 2020 May 19
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Zhu J,
Eichler F,
Biffi A,
Duncan CN,
Williams DA,
Majzoub JA
Endocr Rev
2020 Aug 1;41(4):577-93.
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Prognosis
Cuinat S,
Nizon M,
Isidor B,
Stegmann A,
van Jaarsveld RH,
van Gassen KL,
van der Smagt JJ,
Volker-Touw CML,
Holwerda SJB,
Terhal PA,
Schuhmann S,
Vasileiou G,
Khalifa M,
Nugud AA,
Yasaei H,
Ousager LB,
Brasch-Andersen C,
Deb W,
Besnard T,
Simon MEH,
Amsterdam KH,
Verbeek NE,
Matalon D,
Dykzeul N,
White S,
Spiteri E,
Devriendt K,
Boogaerts A,
Willemsen M,
Brunner HG,
Sinnema M,
De Vries BBA,
Gerkes EH,
Pfundt R,
Izumi K,
Krantz ID,
Xu ZL,
Murrell JR,
Valenzuela I,
Cusco I,
Rovira-Moreno E,
Yang Y,
Bizaoui V,
Patat O,
Faivre L,
Tran-Mau-Them F,
Vitobello A,
Denommé-Pichon AS,
Philippe C,
Bezieau S,
Cogné B
Genet Med
2022 Aug;24(8):1774-1780.
Epub 2022 May 14
doi: 10.1016/j.gim.2022.04.011.
PMID: 35567594
Rodríguez-Palmero A,
Boerrigter MM,
Gómez-Andrés D,
Aldinger KA,
Marcos-Alcalde Í,
Popp B,
Everman DB,
Lovgren AK,
Arpin S,
Bahrambeigi V,
Beunders G,
Bisgaard AM,
Bjerregaard VA,
Bruel AL,
Challman TD,
Cogné B,
Coubes C,
de Man SA,
Denommé-Pichon AS,
Dye TJ,
Elmslie F,
Feuk L,
García-Miñaúr S,
Gertler T,
Giorgio E,
Gruchy N,
Haack TB,
Haldeman-Englert CR,
Haukanes BI,
Hoyer J,
Hurst ACE,
Isidor B,
Soller MJ,
Kushary S,
Kvarnung M,
Landau YE,
Leppig KA,
Lindstrand A,
Kleinendorst L,
MacKenzie A,
Mandrile G,
Mendelsohn BA,
Moghadasi S,
Morton JE,
Moutton S,
Müller AJ,
O'Leary M,
Pacio-Míguez M,
Palomares-Bralo M,
Parikh S,
Pfundt R,
Pode-Shakked B,
Rauch A,
Repnikova E,
Revah-Politi A,
Ross MJ,
Ruivenkamp CAL,
Sarrazin E,
Savatt JM,
Schlüter A,
Schönewolf-Greulich B,
Shad Z,
Shaw-Smith C,
Shieh JT,
Shohat M,
Spranger S,
Thiese H,
Mau-Them FT,
van Bon B,
van de Burgt I,
van de Laar IMBH,
van Drie E,
van Haelst MM,
van Ravenswaaij-Arts CM,
Verdura E,
Vitobello A,
Waldmüller S,
Whiting S,
Zweier C,
Prada CE,
de Vries BBA,
Dobyns WB,
Reiter SF,
Gómez-Puertas P,
Pujol A,
Tümer Z
Genet Med
2021 May;23(5):888-899.
Epub 2021 Feb 17
doi: 10.1038/s41436-020-01075-9.
PMID: 33597769
Jaganathan K,
Kyriazopoulou Panagiotopoulou S,
McRae JF,
Darbandi SF,
Knowles D,
Li YI,
Kosmicki JA,
Arbelaez J,
Cui W,
Schwartz GB,
Chow ED,
Kanterakis E,
Gao H,
Kia A,
Batzoglou S,
Sanders SJ,
Farh KK
Cell
2019 Jan 24;176(3):535-548.e24.
Epub 2019 Jan 17
doi: 10.1016/j.cell.2018.12.015.
PMID: 30661751
Ciaccio C,
Fontana L,
Milani D,
Tabano S,
Miozzo M,
Esposito S
Ital J Pediatr
2017 Apr 19;43(1):39.
doi: 10.1186/s13052-017-0355-y.
PMID: 28420439Free PMC Article
Adams DJ,
Clark DA
Pediatr Clin North Am
2015 Apr;62(2):411-26.
Epub 2015 Jan 22
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Clinical prediction guides
Cuinat S,
Nizon M,
Isidor B,
Stegmann A,
van Jaarsveld RH,
van Gassen KL,
van der Smagt JJ,
Volker-Touw CML,
Holwerda SJB,
Terhal PA,
Schuhmann S,
Vasileiou G,
Khalifa M,
Nugud AA,
Yasaei H,
Ousager LB,
Brasch-Andersen C,
Deb W,
Besnard T,
Simon MEH,
Amsterdam KH,
Verbeek NE,
Matalon D,
Dykzeul N,
White S,
Spiteri E,
Devriendt K,
Boogaerts A,
Willemsen M,
Brunner HG,
Sinnema M,
De Vries BBA,
Gerkes EH,
Pfundt R,
Izumi K,
Krantz ID,
Xu ZL,
Murrell JR,
Valenzuela I,
Cusco I,
Rovira-Moreno E,
Yang Y,
Bizaoui V,
Patat O,
Faivre L,
Tran-Mau-Them F,
Vitobello A,
Denommé-Pichon AS,
Philippe C,
Bezieau S,
Cogné B
Genet Med
2022 Aug;24(8):1774-1780.
Epub 2022 May 14
doi: 10.1016/j.gim.2022.04.011.
PMID: 35567594
Kessi M,
Chen B,
Peng J,
Yan F,
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2021 May 13;16(1):219.
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Au M,
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Campo MD,
Jones MC,
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Bassetti JA,
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Bhoj E,
Dugan S,
Kaplan JD,
Derar N,
Gripp KW,
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Keena B,
Kodra N,
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Nelson B,
Nowaczyk MJ,
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