Etiology
Xian J,
Parthasarathy S,
Ruggiero SM,
Balagura G,
Fitch E,
Helbig K,
Gan J,
Ganesan S,
Kaufman MC,
Ellis CA,
Lewis-Smith D,
Galer P,
Cunningham K,
O'Brien M,
Cosico M,
Baker K,
Darling A,
Veiga de Goes F,
El Achkar CM,
Doering JH,
Furia F,
García-Cazorla Á,
Gardella E,
Geertjens L,
Klein C,
Kolesnik-Taylor A,
Lammertse H,
Lee J,
Mackie A,
Misra-Isrie M,
Olson H,
Sexton E,
Sheidley B,
Smith L,
Sotero L,
Stamberger H,
Syrbe S,
Thalwitzer KM,
van Berkel A,
van Haelst M,
Yuskaitis C,
Weckhuysen S,
Prosser B,
Son Rigby C,
Demarest S,
Pierce S,
Zhang Y,
Møller RS,
Bruining H,
Poduri A,
Zara F,
Verhage M,
Striano P,
Helbig I
Brain
2022 Jun 3;145(5):1668-1683.
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Nickels K,
Kossoff EH,
Eschbach K,
Joshi C
Epilepsia
2021 Jan;62(1):120-127.
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Lagae L,
Sullivan J,
Knupp K,
Laux L,
Polster T,
Nikanorova M,
Devinsky O,
Cross JH,
Guerrini R,
Talwar D,
Miller I,
Farfel G,
Galer BS,
Gammaitoni A,
Mistry A,
Morrison G,
Lock M,
Agarwal A,
Lai WW,
Ceulemans B;
FAiRE DS Study Group
Lancet
2019 Dec 21;394(10216):2243-2254.
Epub 2019 Dec 17
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PMID: 31862249
Vlaskamp DRM,
Shaw BJ,
Burgess R,
Mei D,
Montomoli M,
Xie H,
Myers CT,
Bennett MF,
XiangWei W,
Williams D,
Maas SM,
Brooks AS,
Mancini GMS,
van de Laar IMBH,
van Hagen JM,
Ware TL,
Webster RI,
Malone S,
Berkovic SF,
Kalnins RM,
Sicca F,
Korenke GC,
van Ravenswaaij-Arts CMA,
Hildebrand MS,
Mefford HC,
Jiang Y,
Guerrini R,
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Neurology
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Aaberg KM,
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Lund Søraas C,
Berntsen A,
Magnus P,
Lossius MI,
Stoltenberg C,
Chin R,
Surén P
Pediatrics
2017 May;139(5)
Epub 2017 Apr 5
doi: 10.1542/peds.2016-3908.
PMID: 28557750
Diagnosis
Coursimault J,
Guerrot AM,
Morrow MM,
Schramm C,
Zamora FM,
Shanmugham A,
Liu S,
Zou F,
Bilan F,
Le Guyader G,
Bruel AL,
Denommé-Pichon AS,
Faivre L,
Tran Mau-Them F,
Tessarech M,
Colin E,
El Chehadeh S,
Gérard B,
Schaefer E,
Cogne B,
Isidor B,
Nizon M,
Doummar D,
Valence S,
Héron D,
Keren B,
Mignot C,
Coutton C,
Devillard F,
Alaix AS,
Amiel J,
Colleaux L,
Munnich A,
Poirier K,
Rio M,
Rondeau S,
Barcia G,
Callewaert B,
Dheedene A,
Kumps C,
Vergult S,
Menten B,
Chung WK,
Hernan R,
Larson A,
Nori K,
Stewart S,
Wheless J,
Kresge C,
Pletcher BA,
Caumes R,
Smol T,
Sigaudy S,
Coubes C,
Helm M,
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Morrison J,
Wheeler PG,
Kritzer A,
Jouret G,
Afenjar A,
Deleuze JF,
Olaso R,
Boland A,
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Hum Genet
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Tucci A,
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Ratnaike T,
Pitceathly RDS,
Bugiardini E,
Quinlivan R,
Hanna MG,
Clement E,
Ashton E,
Sayer JA,
Brennan P,
Josifova D,
Izatt L,
Fratter C,
Nesbitt V,
Barrett T,
McMullen DJ,
Smith A,
Deshpande C,
Smithson SF,
Festenstein R,
Canham N,
Caulfield M,
Houlden H,
Rahman S,
Chinnery PF;
Genomics England Research Consortium
BMJ
2021 Nov 3;375:e066288.
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Ernst ME,
Baugh EH,
Thomas A,
Bier L,
Lippa N,
Stong N,
Mulhern MS,
Kushary S,
Akman CI,
Heinzen EL,
Yeh R,
Bi W,
Hanchard NA,
Burrage LC,
Leduc MS,
Chong JSC,
Bend R,
Lyons MJ,
Lee JA,
Suwannarat P,
Brilstra E,
Simon M,
Koopmans M,
van Binsbergen E,
Groepper D,
Fleischer J,
Nava C,
Keren B,
Mignot C,
Mathieu S,
Mancini GMS,
Madan-Khetarpal S,
Infante EM,
Bluvstein J,
Seeley A,
Bachman K,
Klee EW,
Schultz-Rogers LE,
Hasadsri L,
Barnett S,
Ellingson MS,
Ferber MJ,
Narayanan V,
Ramsey K,
Rauch A,
Joset P,
Steindl K,
Sheehan T,
Poduri A,
Vasquez A,
Ruivenkamp C,
White SM,
Pais L,
Monaghan KG,
Goldstein DB,
Sands TT,
Aggarwal V
Epilepsia
2021 Jul;62(7):e103-e109.
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PMID: 34041744Free PMC Article
Nickels K,
Kossoff EH,
Eschbach K,
Joshi C
Epilepsia
2021 Jan;62(1):120-127.
Epub 2020 Nov 14
doi: 10.1111/epi.16752.
PMID: 33190223
Aaberg KM,
Gunnes N,
Bakken IJ,
Lund Søraas C,
Berntsen A,
Magnus P,
Lossius MI,
Stoltenberg C,
Chin R,
Surén P
Pediatrics
2017 May;139(5)
Epub 2017 Apr 5
doi: 10.1542/peds.2016-3908.
PMID: 28557750
Therapy
Patel AD,
Mazurkiewicz-Bełdzińska M,
Chin RF,
Gil-Nagel A,
Gunning B,
Halford JJ,
Mitchell W,
Scott Perry M,
Thiele EA,
Weinstock A,
Dunayevich E,
Checketts D,
Devinsky O
Epilepsia
2021 Sep;62(9):2228-2239.
Epub 2021 Jul 20
doi: 10.1111/epi.17000.
PMID: 34287833
Vazquez B,
Tomson T,
Dobrinsky C,
Schuck E,
O'Brien TJ
Epilepsia
2021 Mar;62(3):698-708.
doi: 10.1111/epi.16821.
PMID: 33666943Free PMC Article
Nickels K,
Kossoff EH,
Eschbach K,
Joshi C
Epilepsia
2021 Jan;62(1):120-127.
Epub 2020 Nov 14
doi: 10.1111/epi.16752.
PMID: 33190223
Lagae L,
Sullivan J,
Knupp K,
Laux L,
Polster T,
Nikanorova M,
Devinsky O,
Cross JH,
Guerrini R,
Talwar D,
Miller I,
Farfel G,
Galer BS,
Gammaitoni A,
Mistry A,
Morrison G,
Lock M,
Agarwal A,
Lai WW,
Ceulemans B;
FAiRE DS Study Group
Lancet
2019 Dec 21;394(10216):2243-2254.
Epub 2019 Dec 17
doi: 10.1016/S0140-6736(19)32500-0.
PMID: 31862249
Vlaskamp DRM,
Shaw BJ,
Burgess R,
Mei D,
Montomoli M,
Xie H,
Myers CT,
Bennett MF,
XiangWei W,
Williams D,
Maas SM,
Brooks AS,
Mancini GMS,
van de Laar IMBH,
van Hagen JM,
Ware TL,
Webster RI,
Malone S,
Berkovic SF,
Kalnins RM,
Sicca F,
Korenke GC,
van Ravenswaaij-Arts CMA,
Hildebrand MS,
Mefford HC,
Jiang Y,
Guerrini R,
Scheffer IE
Neurology
2019 Jan 8;92(2):e96-e107.
Epub 2018 Dec 12
doi: 10.1212/WNL.0000000000006729.
PMID: 30541864Free PMC Article
Prognosis
Kaya Özçora GD,
Söbü E,
Gümüş U
Neurol Res
2023 Mar;45(3):226-233.
Epub 2023 Feb 2
doi: 10.1080/01616412.2023.2170917.
PMID: 36731496
Schon KR,
Horvath R,
Wei W,
Calabrese C,
Tucci A,
Ibañez K,
Ratnaike T,
Pitceathly RDS,
Bugiardini E,
Quinlivan R,
Hanna MG,
Clement E,
Ashton E,
Sayer JA,
Brennan P,
Josifova D,
Izatt L,
Fratter C,
Nesbitt V,
Barrett T,
McMullen DJ,
Smith A,
Deshpande C,
Smithson SF,
Festenstein R,
Canham N,
Caulfield M,
Houlden H,
Rahman S,
Chinnery PF;
Genomics England Research Consortium
BMJ
2021 Nov 3;375:e066288.
doi: 10.1136/bmj-2021-066288.
PMID: 34732400Free PMC Article
Vazquez B,
Tomson T,
Dobrinsky C,
Schuck E,
O'Brien TJ
Epilepsia
2021 Mar;62(3):698-708.
doi: 10.1111/epi.16821.
PMID: 33666943Free PMC Article
Nickels K,
Kossoff EH,
Eschbach K,
Joshi C
Epilepsia
2021 Jan;62(1):120-127.
Epub 2020 Nov 14
doi: 10.1111/epi.16752.
PMID: 33190223
Aaberg KM,
Gunnes N,
Bakken IJ,
Lund Søraas C,
Berntsen A,
Magnus P,
Lossius MI,
Stoltenberg C,
Chin R,
Surén P
Pediatrics
2017 May;139(5)
Epub 2017 Apr 5
doi: 10.1542/peds.2016-3908.
PMID: 28557750
Clinical prediction guides
Strzelczyk A,
Lagae L,
Wilmshurst JM,
Brunklaus A,
Striano P,
Rosenow F,
Schubert-Bast S
Epilepsia Open
2023 Dec;8(4):1256-1270.
Epub 2023 Oct 11
doi: 10.1002/epi4.12832.
PMID: 37750463Free PMC Article
Xian J,
Parthasarathy S,
Ruggiero SM,
Balagura G,
Fitch E,
Helbig K,
Gan J,
Ganesan S,
Kaufman MC,
Ellis CA,
Lewis-Smith D,
Galer P,
Cunningham K,
O'Brien M,
Cosico M,
Baker K,
Darling A,
Veiga de Goes F,
El Achkar CM,
Doering JH,
Furia F,
García-Cazorla Á,
Gardella E,
Geertjens L,
Klein C,
Kolesnik-Taylor A,
Lammertse H,
Lee J,
Mackie A,
Misra-Isrie M,
Olson H,
Sexton E,
Sheidley B,
Smith L,
Sotero L,
Stamberger H,
Syrbe S,
Thalwitzer KM,
van Berkel A,
van Haelst M,
Yuskaitis C,
Weckhuysen S,
Prosser B,
Son Rigby C,
Demarest S,
Pierce S,
Zhang Y,
Møller RS,
Bruining H,
Poduri A,
Zara F,
Verhage M,
Striano P,
Helbig I
Brain
2022 Jun 3;145(5):1668-1683.
doi: 10.1093/brain/awab327.
PMID: 35190816Free PMC Article
Vazquez B,
Tomson T,
Dobrinsky C,
Schuck E,
O'Brien TJ
Epilepsia
2021 Mar;62(3):698-708.
doi: 10.1111/epi.16821.
PMID: 33666943Free PMC Article
Lagae L,
Sullivan J,
Knupp K,
Laux L,
Polster T,
Nikanorova M,
Devinsky O,
Cross JH,
Guerrini R,
Talwar D,
Miller I,
Farfel G,
Galer BS,
Gammaitoni A,
Mistry A,
Morrison G,
Lock M,
Agarwal A,
Lai WW,
Ceulemans B;
FAiRE DS Study Group
Lancet
2019 Dec 21;394(10216):2243-2254.
Epub 2019 Dec 17
doi: 10.1016/S0140-6736(19)32500-0.
PMID: 31862249
Aaberg KM,
Gunnes N,
Bakken IJ,
Lund Søraas C,
Berntsen A,
Magnus P,
Lossius MI,
Stoltenberg C,
Chin R,
Surén P
Pediatrics
2017 May;139(5)
Epub 2017 Apr 5
doi: 10.1542/peds.2016-3908.
PMID: 28557750