Etiology
Wang X,
Yang F,
Chen B,
Jiang W
Acta Neurol Scand
2022 Dec;146(6):752-760.
Epub 2022 Oct 26
doi: 10.1111/ane.13718.
PMID: 36285875
Ziobro J,
Shellhaas RA
Semin Neurol
2020 Apr;40(2):246-256.
Epub 2020 Mar 6
doi: 10.1055/s-0040-1702943.
PMID: 32143234
Shellhaas RA
Handb Clin Neurol
2019;162:347-361.
doi: 10.1016/B978-0-444-64029-1.00017-5.
PMID: 31324320
Bergey GK
Continuum (Minneap Minn)
2016 Feb;22(1 Epilepsy):38-50.
doi: 10.1212/CON.0000000000000271.
PMID: 26844729
Patterson JL,
Carapetian SA,
Hageman JR,
Kelley KR
Pediatr Ann
2013 Dec;42(12):249-54.
doi: 10.3928/00904481-20131122-09.
PMID: 24295158
Diagnosis
Wirrell E
Continuum (Minneap Minn)
2022 Apr 1;28(2):230-260.
doi: 10.1212/CON.0000000000001074.
PMID: 35393959
Pisani F,
Spagnoli C,
Falsaperla R,
Nagarajan L,
Ramantani G
Seizure
2021 Feb;85:48-56.
Epub 2021 Jan 4
doi: 10.1016/j.seizure.2020.12.023.
PMID: 33418166
Ziobro J,
Shellhaas RA
Semin Neurol
2020 Apr;40(2):246-256.
Epub 2020 Mar 6
doi: 10.1055/s-0040-1702943.
PMID: 32143234
Shellhaas RA
Handb Clin Neurol
2019;162:347-361.
doi: 10.1016/B978-0-444-64029-1.00017-5.
PMID: 31324320
Johnson EL
Med Clin North Am
2019 Mar;103(2):309-324.
Epub 2018 Dec 3
doi: 10.1016/j.mcna.2018.10.002.
PMID: 30704683
Therapy
Pizzo F,
Collotta AD,
Di Nora A,
Costanza G,
Ruggieri M,
Falsaperla R
Expert Rev Neurother
2022 Feb;22(2):169-177.
Epub 2022 Feb 25
doi: 10.1080/14737175.2022.2030220.
PMID: 35144527
Rosenthal ES
Continuum (Minneap Minn)
2021 Oct 1;27(5):1321-1343.
doi: 10.1212/CON.0000000000001012.
PMID: 34618762
Ziobro JM,
Eschbach K,
Shellhaas RA
Neurotherapeutics
2021 Jul;18(3):1564-1581.
Epub 2021 Aug 12
doi: 10.1007/s13311-021-01085-8.
PMID: 34386906Free PMC Article
von Wrede R,
Helmstaedter C,
Surges R
Clin Drug Investig
2021 Mar;41(3):211-220.
Epub 2021 Feb 9
doi: 10.1007/s40261-021-01003-y.
PMID: 33559102Free PMC Article
Kotulska K,
Kwiatkowski DJ,
Curatolo P,
Weschke B,
Riney K,
Jansen F,
Feucht M,
Krsek P,
Nabbout R,
Jansen AC,
Wojdan K,
Sijko K,
Głowacka-Walas J,
Borkowska J,
Sadowski K,
Domańska-Pakieła D,
Moavero R,
Hertzberg C,
Hulshof H,
Scholl T,
Benova B,
Aronica E,
de Ridder J,
Lagae L,
Jóźwiak S;
EPISTOP Investigators
Ann Neurol
2021 Feb;89(2):304-314.
Epub 2020 Nov 27
doi: 10.1002/ana.25956.
PMID: 33180985Free PMC Article
Prognosis
Oppermann H,
Marcos-Grañeda E,
Weiss LA,
Gurnett CA,
Jelsig AM,
Vineke SH,
Isidor B,
Mercier S,
Magnussen K,
Zacher P,
Hashim M,
Pagnamenta AT,
Race S,
Srivastava S,
Frazier Z,
Maiwald R,
Pergande M,
Milani D,
Rinelli M,
Levy J,
Krey I,
Fontana P,
Lonardo F,
Riley S,
Kretzer J,
Rankin J,
Reis LM,
Semina EV,
Reuter MS,
Scherer SW,
Iascone M,
Weis D,
Fagerberg CR,
Brasch-Andersen C,
Hansen LK,
Kuechler A,
Noble N,
Gardham A,
Tenney J,
Rathore G,
Beck-Woedl S,
Haack TB,
Pavlidou DC,
Atallah I,
Vodopiutz J,
Janecke AR,
Hsieh TC,
Lesmann H,
Klinkhammer H,
Krawitz PM,
Lemke JR,
Jamra RA,
Nieto M,
Tümer Z,
Platzer K
Eur J Hum Genet
2023 Nov;31(11):1251-1260.
Epub 2023 Aug 30
doi: 10.1038/s41431-023-01445-2.
PMID: 37644171Free PMC Article
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
Salanova V,
Sperling MR,
Gross RE,
Irwin CP,
Vollhaber JA,
Giftakis JE,
Fisher RS;
SANTÉ Study Group
Epilepsia
2021 Jun;62(6):1306-1317.
Epub 2021 Apr 8
doi: 10.1111/epi.16895.
PMID: 33830503
Patterson JL,
Carapetian SA,
Hageman JR,
Kelley KR
Pediatr Ann
2013 Dec;42(12):249-54.
doi: 10.3928/00904481-20131122-09.
PMID: 24295158
Rennie JM
Eur J Pediatr
1997 Feb;156(2):83-7.
doi: 10.1007/s004310050559.
PMID: 9039506
Clinical prediction guides
Rossi A,
Blok LS,
Neuser S,
Klöckner C,
Platzer K,
Faivre LO,
Weigand H,
Dentici ML,
Tartaglia M,
Niceta M,
Alfieri P,
Srivastava S,
Coulter D,
Smith L,
Vinorum K,
Cappuccio G,
Brunetti-Pierri N,
Torun D,
Arslan M,
Lauridsen MF,
Murch O,
Irving R,
Lynch SA,
Mehta SG,
Carmichael J,
Zonneveld-Huijssoon E,
de Vries B,
Kleefstra T,
Johannesen KM,
Westphall IT,
Hughes SS,
Smithson S,
Evans J,
Dudding-Byth T,
Simon M,
van Binsbergen E,
Herkert JC,
Beunders G,
Oppermann H,
Bakal M,
Møller RS,
Rubboli G,
Bayat A
Clin Genet
2023 Aug;104(2):186-197.
Epub 2023 May 10
doi: 10.1111/cge.14353.
PMID: 37165752Free PMC Article
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
Cousin MA,
Creighton BA,
Breau KA,
Spillmann RC,
Torti E,
Dontu S,
Tripathi S,
Ajit D,
Edwards RJ,
Afriyie S,
Bay JC,
Harper KM,
Beltran AA,
Munoz LJ,
Falcon Rodriguez L,
Stankewich MC,
Person RE,
Si Y,
Normand EA,
Blevins A,
May AS,
Bier L,
Aggarwal V,
Mancini GMS,
van Slegtenhorst MA,
Cremer K,
Becker J,
Engels H,
Aretz S,
MacKenzie JJ,
Brilstra E,
van Gassen KLI,
van Jaarsveld RH,
Oegema R,
Parsons GM,
Mark P,
Helbig I,
McKeown SE,
Stratton R,
Cogne B,
Isidor B,
Cacheiro P,
Smedley D,
Firth HV,
Bierhals T,
Kloth K,
Weiss D,
Fairley C,
Shieh JT,
Kritzer A,
Jayakar P,
Kurtz-Nelson E,
Bernier RA,
Wang T,
Eichler EE,
van de Laar IMBH,
McConkie-Rosell A,
McDonald MT,
Kemppainen J,
Lanpher BC,
Schultz-Rogers LE,
Gunderson LB,
Pichurin PN,
Yoon G,
Zech M,
Jech R,
Winkelmann J;
Undiagnosed Diseases Network;
Genomics England Research Consortium,
Beltran AS,
Zimmermann MT,
Temple B,
Moy SS,
Klee EW,
Tan QK,
Lorenzo DN
Nat Genet
2021 Jul;53(7):1006-1021.
Epub 2021 Jul 1
doi: 10.1038/s41588-021-00886-z.
PMID: 34211179Free PMC Article
Vissers LELM,
Kalvakuri S,
de Boer E,
Geuer S,
Oud M,
van Outersterp I,
Kwint M,
Witmond M,
Kersten S,
Polla DL,
Weijers D,
Begtrup A,
McWalter K,
Ruiz A,
Gabau E,
Morton JEV,
Griffith C,
Weiss K,
Gamble C,
Bartley J,
Vernon HJ,
Brunet K,
Ruivenkamp C,
Kant SG,
Kruszka P,
Larson A,
Afenjar A,
Billette de Villemeur T,
Nugent K;
DDD Study,
Raymond FL,
Venselaar H,
Demurger F,
Soler-Alfonso C,
Li D,
Bhoj E,
Hayes I,
Hamilton NP,
Ahmad A,
Fisher R,
van den Born M,
Willems M,
Sorlin A,
Delanne J,
Moutton S,
Christophe P,
Mau-Them FT,
Vitobello A,
Goel H,
Massingham L,
Phornphutkul C,
Schwab J,
Keren B,
Charles P,
Vreeburg M,
De Simone L,
Hoganson G,
Iascone M,
Milani D,
Evenepoel L,
Revencu N,
Ward DI,
Burns K,
Krantz I,
Raible SE,
Murrell JR,
Wood K,
Cho MT,
van Bokhoven H,
Muenke M,
Kleefstra T,
Bodmer R,
de Brouwer APM
Am J Hum Genet
2020 Jul 2;107(1):164-172.
Epub 2020 Jun 17
doi: 10.1016/j.ajhg.2020.05.017.
PMID: 32553196Free PMC Article
Acharya UR,
Hagiwara Y,
Adeli H
Epilepsy Behav
2018 Nov;88:251-261.
Epub 2018 Oct 11
doi: 10.1016/j.yebeh.2018.09.030.
PMID: 30317059