Etiology
Gokce-Samar Z,
Vetro A,
De Bellescize J,
Pisano T,
Monteiro L,
Penaud N,
Korff CM,
Fluss J,
Marini C,
Cesaroni E,
Alvarez BM,
Sanlaville D,
Chatron N,
Arzimanoglou AA,
Labalme A,
Cuddapah VA,
Ruggiero SM,
Lecoquierre F,
Nicolas G,
Marie GA,
Lebas A,
Testard HO,
Helbig KL,
Ruiz A,
Ngoh A,
Kurian MA,
Reid K,
Spaull R,
Joset P,
Ramantani G,
Steindl K,
Krenn M,
Gerstl L,
Vieker S,
Craiu D,
Pendziwiat M,
Haldeman-Englert C,
Kanivets I,
Romanova I,
Rajan DS,
Rosenfeld JA,
Au M,
Grand K,
Graham M Jr,
Isapof A,
Villeneuve N,
Smol T,
Caumes R,
Zacher P,
Neuser S,
Tinschert S,
Platzer K,
Bartolomaeus T,
Mohnke I,
Radtke M,
Jamra RA,
Helbig I,
Jansen FE,
Koop K,
Rudolf G,
Küry S,
Courchet J,
Guerrini R,
Lesca G
Neurology
2024 Jan 23;102(2):e207945.
Epub 2023 Dec 22
doi: 10.1212/WNL.0000000000207945.
PMID: 38165337
Fang Y,
Si X,
Wang J,
Wang Z,
Chen Y,
Liu Y,
Yan Y,
Tian J,
Zhang B,
Pu J
Neurology
2023 Jul 25;101(4):e399-e409.
Epub 2023 May 24
doi: 10.1212/WNL.0000000000207423.
PMID: 37225432Free PMC Article
Tang P,
Guo X,
Chong L,
Li R
Front Immunol
2023;14:1071580.
Epub 2023 Feb 13
doi: 10.3389/fimmu.2023.1071580.
PMID: 36860869Free PMC Article
Nix JS,
Blakeley J,
Rodriguez FJ
Acta Neuropathol
2020 Apr;139(4):625-641.
Epub 2019 Apr 8
doi: 10.1007/s00401-019-02002-2.
PMID: 30963251Free PMC Article
Mullen SA,
Berkovic SF;
ILAE Genetics Commission
Epilepsia
2018 Jun;59(6):1148-1153.
Epub 2018 May 9
doi: 10.1111/epi.14042.
PMID: 29741207
Diagnosis
Fang Y,
Si X,
Wang J,
Wang Z,
Chen Y,
Liu Y,
Yan Y,
Tian J,
Zhang B,
Pu J
Neurology
2023 Jul 25;101(4):e399-e409.
Epub 2023 May 24
doi: 10.1212/WNL.0000000000207423.
PMID: 37225432Free PMC Article
Tang P,
Guo X,
Chong L,
Li R
Front Immunol
2023;14:1071580.
Epub 2023 Feb 13
doi: 10.3389/fimmu.2023.1071580.
PMID: 36860869Free PMC Article
Weerts MJA,
Lanko K,
Guzmán-Vega FJ,
Jackson A,
Ramakrishnan R,
Cardona-Londoño KJ,
Peña-Guerra KA,
van Bever Y,
van Paassen BW,
Kievit A,
van Slegtenhorst M,
Allen NM,
Kehoe CM,
Robinson HK,
Pang L,
Banu SH,
Zaman M,
Efthymiou S,
Houlden H,
Järvelä I,
Lauronen L,
Määttä T,
Schrauwen I,
Leal SM,
Ruivenkamp CAL,
Barge-Schaapveld DQCM,
Peeters-Scholte CMPCD,
Galehdari H,
Mazaheri N,
Sisodiya SM,
Harrison V,
Sun A,
Thies J,
Pedroza LA,
Lara-Taranchenko Y,
Chinn IK,
Lupski JR,
Garza-Flores A,
McGlothlin J,
Yang L,
Huang S,
Wang X,
Jewett T,
Rosso G,
Lin X,
Mohammed S,
Merritt JL 2nd,
Mirzaa GM,
Timms AE,
Scheck J,
Elting MW,
Polstra AM,
Schenck L,
Ruzhnikov MRZ,
Vetro A,
Montomoli M,
Guerrini R,
Koboldt DC,
Mosher TM,
Pastore MT,
McBride KL,
Peng J,
Pan Z,
Willemsen M,
Koning S,
Turnpenny PD,
de Vries BBA,
Gilissen C,
Pfundt R,
Lees M,
Braddock SR,
Klemp KC,
Vansenne F,
van Gijn ME,
Quindipan C,
Deardorff MA,
Hamm JA,
Putnam AM,
Baud R,
Walsh L,
Lynch SA,
Baptista J,
Person RE,
Monaghan KG,
Crunk A,
Keller-Ramey J,
Reich A,
Elloumi HZ,
Alders M,
Kerkhof J,
McConkey H,
Haghshenas S;
Genomics England Research Consortium,
Maroofian R,
Sadikovic B,
Banka S,
Arold ST,
Barakat TS
Genet Med
2021 Nov;23(11):2122-2137.
Epub 2021 Aug 3
doi: 10.1038/s41436-021-01246-2.
PMID: 34345025Free PMC Article
Nix JS,
Blakeley J,
Rodriguez FJ
Acta Neuropathol
2020 Apr;139(4):625-641.
Epub 2019 Apr 8
doi: 10.1007/s00401-019-02002-2.
PMID: 30963251Free PMC Article
Mullen SA,
Berkovic SF;
ILAE Genetics Commission
Epilepsia
2018 Jun;59(6):1148-1153.
Epub 2018 May 9
doi: 10.1111/epi.14042.
PMID: 29741207
Therapy
Liu C,
Ye J,
He S,
Ma Z,
Luo F,
Miao J,
Li H,
Cao P,
Zhu J
Front Immunol
2024;15:1389549.
Epub 2024 May 16
doi: 10.3389/fimmu.2024.1389549.
PMID: 38817604Free PMC Article
Fang Y,
Si X,
Wang J,
Wang Z,
Chen Y,
Liu Y,
Yan Y,
Tian J,
Zhang B,
Pu J
Neurology
2023 Jul 25;101(4):e399-e409.
Epub 2023 May 24
doi: 10.1212/WNL.0000000000207423.
PMID: 37225432Free PMC Article
Tang P,
Guo X,
Chong L,
Li R
Front Immunol
2023;14:1071580.
Epub 2023 Feb 13
doi: 10.3389/fimmu.2023.1071580.
PMID: 36860869Free PMC Article
Li S,
Zhang L,
Wei N,
Tai Z,
Yu C,
Xu Z
Front Endocrinol (Lausanne)
2021;12:787854.
Epub 2021 Dec 21
doi: 10.3389/fendo.2021.787854.
PMID: 34992582Free PMC Article
Galli J,
Micheletti S,
Malerba L,
Fazzi E,
Giordano L
Seizure
2018 Oct;61:1-3.
Epub 2018 Jul 18
doi: 10.1016/j.seizure.2018.07.009.
PMID: 30029089
Prognosis
He Z,
Li Y,
Liu S,
Li J
Epilepsia Open
2023 Dec;8(4):1452-1459.
Epub 2023 Aug 26
doi: 10.1002/epi4.12818.
PMID: 37602490Free PMC Article
Fang Y,
Si X,
Wang J,
Wang Z,
Chen Y,
Liu Y,
Yan Y,
Tian J,
Zhang B,
Pu J
Neurology
2023 Jul 25;101(4):e399-e409.
Epub 2023 May 24
doi: 10.1212/WNL.0000000000207423.
PMID: 37225432Free PMC Article
Carmen C,
Ibarra-Hernández JM,
Estefania GP,
Eguibar JR
Neurosci Lett
2022 Jun 21;782:136684.
Epub 2022 May 17
doi: 10.1016/j.neulet.2022.136684.
PMID: 35595190
Xie H,
Su W,
Pei J,
Zhang Y,
Gao K,
Li J,
Ma X,
Zhang Y,
Wu X,
Jiang Y
Epilepsy Res
2019 Aug;154:55-61.
Epub 2019 Apr 22
doi: 10.1016/j.eplepsyres.2019.04.005.
PMID: 31054517
Scheffer IE
Eur J Paediatr Neurol
2012 Sep;16 Suppl 1:S5-8.
Epub 2012 Jun 16
doi: 10.1016/j.ejpn.2012.04.007.
PMID: 22704920
Clinical prediction guides
Gokce-Samar Z,
Vetro A,
De Bellescize J,
Pisano T,
Monteiro L,
Penaud N,
Korff CM,
Fluss J,
Marini C,
Cesaroni E,
Alvarez BM,
Sanlaville D,
Chatron N,
Arzimanoglou AA,
Labalme A,
Cuddapah VA,
Ruggiero SM,
Lecoquierre F,
Nicolas G,
Marie GA,
Lebas A,
Testard HO,
Helbig KL,
Ruiz A,
Ngoh A,
Kurian MA,
Reid K,
Spaull R,
Joset P,
Ramantani G,
Steindl K,
Krenn M,
Gerstl L,
Vieker S,
Craiu D,
Pendziwiat M,
Haldeman-Englert C,
Kanivets I,
Romanova I,
Rajan DS,
Rosenfeld JA,
Au M,
Grand K,
Graham M Jr,
Isapof A,
Villeneuve N,
Smol T,
Caumes R,
Zacher P,
Neuser S,
Tinschert S,
Platzer K,
Bartolomaeus T,
Mohnke I,
Radtke M,
Jamra RA,
Helbig I,
Jansen FE,
Koop K,
Rudolf G,
Küry S,
Courchet J,
Guerrini R,
Lesca G
Neurology
2024 Jan 23;102(2):e207945.
Epub 2023 Dec 22
doi: 10.1212/WNL.0000000000207945.
PMID: 38165337
Pişkin ŞA,
Korkmaz HY,
Ulusoy CA,
Şanlı E,
Küçükali CI,
Onat F,
Tüzün E,
Çarçak N
Front Immunol
2023;14:1268986.
Epub 2023 Nov 15
doi: 10.3389/fimmu.2023.1268986.
PMID: 38035091Free PMC Article
Nong W,
Mo G,
Luo C
Front Public Health
2023;11:1202747.
Epub 2023 Jul 26
doi: 10.3389/fpubh.2023.1202747.
PMID: 37564429Free PMC Article
Fang Y,
Si X,
Wang J,
Wang Z,
Chen Y,
Liu Y,
Yan Y,
Tian J,
Zhang B,
Pu J
Neurology
2023 Jul 25;101(4):e399-e409.
Epub 2023 May 24
doi: 10.1212/WNL.0000000000207423.
PMID: 37225432Free PMC Article
Tang P,
Guo X,
Chong L,
Li R
Front Immunol
2023;14:1071580.
Epub 2023 Feb 13
doi: 10.3389/fimmu.2023.1071580.
PMID: 36860869Free PMC Article