Etiology
Putaala J
Continuum (Minneap Minn)
2020 Apr;26(2):386-414.
doi: 10.1212/CON.0000000000000833.
PMID: 32224758
Hedrich UBS,
Lauxmann S,
Lerche H
Epilepsia
2019 Dec;60 Suppl 3:S68-S76.
doi: 10.1111/epi.14731.
PMID: 31904120
Wong-Kisiel LC,
Blauwblomme T,
Ho ML,
Boddaert N,
Parisi J,
Wirrell E,
Nabbout R
Epilepsy Res
2018 Sep;145:1-17.
Epub 2018 May 14
doi: 10.1016/j.eplepsyres.2018.05.006.
PMID: 29803953
Helbig I,
von Deimling M,
Marsh ED
Adv Neurobiol
2017;15:295-315.
doi: 10.1007/978-3-319-57193-5_11.
PMID: 28674986
Cross JH,
Guerrini R
Handb Clin Neurol
2013;111:619-26.
doi: 10.1016/B978-0-444-52891-9.00064-6.
PMID: 23622209
Diagnosis
Leonard H,
Downs J,
Benke TA,
Swanson L,
Olson H,
Demarest S
Lancet Neurol
2022 Jun;21(6):563-576.
Epub 2022 Apr 25
doi: 10.1016/S1474-4422(22)00035-7.
PMID: 35483386Free PMC Article
Scheffer IE,
Nabbout R
Epilepsia
2019 Dec;60 Suppl 3:S17-S24.
doi: 10.1111/epi.16386.
PMID: 31904117
Pisani F,
Percesepe A,
Spagnoli C
Eur J Paediatr Neurol
2018 May;22(3):354-357.
Epub 2018 Feb 16
doi: 10.1016/j.ejpn.2018.02.006.
PMID: 29501409
von Deimling M,
Helbig I,
Marsh ED
Curr Neurol Neurosci Rep
2017 Feb;17(2):10.
doi: 10.1007/s11910-017-0720-7.
PMID: 28229394
Cross JH,
Guerrini R
Handb Clin Neurol
2013;111:619-26.
doi: 10.1016/B978-0-444-52891-9.00064-6.
PMID: 23622209
Therapy
Phan J,
Ramos M,
Soares T,
Parmar MS
Oxid Med Cell Longev
2022;2022:7692215.
Epub 2022 Oct 26
doi: 10.1155/2022/7692215.
PMID: 36338344Free PMC Article
Golub V,
Reddy DS
Adv Exp Med Biol
2021;1264:93-110.
doi: 10.1007/978-3-030-57369-0_7.
PMID: 33332006
Wilson MP,
Plecko B,
Mills PB,
Clayton PT
J Inherit Metab Dis
2019 Jul;42(4):629-646.
Epub 2019 Mar 20
doi: 10.1002/jimd.12060.
PMID: 30671974
Varelas PN,
Spanaki MV,
Mirski MA
Neurosurg Clin N Am
2013 Jul;24(3):393-406.
Epub 2013 Apr 29
doi: 10.1016/j.nec.2013.03.005.
PMID: 23809033
Pearl PL,
Bennett HD,
Khademian Z
Curr Neurol Neurosci Rep
2005 Mar;5(2):127-33.
doi: 10.1007/s11910-005-0010-7.
PMID: 15743550
Prognosis
Steel D,
Kurian MA
Curr Opin Neurol
2020 Aug;33(4):500-507.
doi: 10.1097/WCO.0000000000000831.
PMID: 32657892
Putaala J
Continuum (Minneap Minn)
2020 Apr;26(2):386-414.
doi: 10.1212/CON.0000000000000833.
PMID: 32224758
Wong-Kisiel LC,
Blauwblomme T,
Ho ML,
Boddaert N,
Parisi J,
Wirrell E,
Nabbout R
Epilepsy Res
2018 Sep;145:1-17.
Epub 2018 May 14
doi: 10.1016/j.eplepsyres.2018.05.006.
PMID: 29803953
Noebels J
J Gen Physiol
2017 May 1;149(5):533-546.
Epub 2017 Apr 20
doi: 10.1085/jgp.201711759.
PMID: 28428202Free PMC Article
Dibbens LM,
Rubboli G
Epileptic Disord
2016 Sep 1;18(S2):111-114.
doi: 10.1684/epd.2016.0848.
PMID: 27618868
Clinical prediction guides
Zhu ZA,
Li YY,
Xu J,
Xue H,
Feng X,
Zhu YC,
Xiong ZQ
Cell Rep
2023 Oct 31;42(10):113202.
Epub 2023 Sep 30
doi: 10.1016/j.celrep.2023.113202.
PMID: 37777961
Langhammer F,
Maroofian R,
Badar R,
Gregor A,
Rochman M,
Ratliff JB,
Koopmans M,
Herget T,
Hempel M,
Kortüm F,
Heron D,
Mignot C,
Keren B,
Brooks S,
Botti C,
Ben-Zeev B,
Argilli E,
Sherr EH,
Gowda VK,
Srinivasan VM,
Bakhtiari S,
Kruer MC,
Salih MA,
Kuechler A,
Muller EA,
Blocker K,
Kuismin O,
Park KL,
Kochhar A,
Brown K,
Ramanathan S,
Clark RD,
Elgizouli M,
Melikishvili G,
Tabatadze N,
Stark Z,
Mirzaa GM,
Ong J,
Grasshoff U,
Bevot A,
von Wintzingerode L,
Jamra RA,
Hennig Y,
Goldenberg P,
Al Alam C,
Charif M,
Boulouiz R,
Bellaoui M,
Amrani R,
Al Mutairi F,
Tamim AM,
Abdulwahab F,
Alkuraya FS,
Khouj EM,
Alvi JR,
Sultan T,
Hashemi N,
Karimiani EG,
Ashrafzadeh F,
Imannezhad S,
Efthymiou S,
Houlden H,
Sticht H,
Zweier C
Genet Med
2023 Aug;25(8):100885.
Epub 2023 May 8
doi: 10.1016/j.gim.2023.100885.
PMID: 37165955
Talwar D,
Hammer MF
Pediatr Neurol
2021 Sep;122:76-83.
Epub 2021 Aug 3
doi: 10.1016/j.pediatrneurol.2021.06.011.
PMID: 34353676
Itai T,
Miyatake S,
Taguri M,
Nozaki F,
Ohta M,
Osaka H,
Morimoto M,
Tandou T,
Nohara F,
Takami Y,
Yoshioka F,
Shimokawa S,
Okuno-Yuguchi J,
Motobayashi M,
Takei Y,
Fukuyama T,
Kumada S,
Miyata Y,
Ogawa C,
Maki Y,
Togashi N,
Ishikura T,
Kinoshita M,
Mitani Y,
Kanemura Y,
Omi T,
Ando N,
Hattori A,
Saitoh S,
Kitai Y,
Hirai S,
Arai H,
Ishida F,
Taniguchi H,
Kitabatake Y,
Ozono K,
Nabatame S,
Smigiel R,
Kato M,
Tanda K,
Saito Y,
Ishiyama A,
Noguchi Y,
Miura M,
Nakano T,
Hirano K,
Honda R,
Kuki I,
Takanashi JI,
Takeuchi A,
Fukasawa T,
Seiwa C,
Harada A,
Yachi Y,
Higashiyama H,
Terashima H,
Kumagai T,
Hada S,
Abe Y,
Miyagi E,
Uchiyama Y,
Fujita A,
Imagawa E,
Azuma Y,
Hamanaka K,
Koshimizu E,
Mitsuhashi S,
Mizuguchi T,
Takata A,
Miyake N,
Tsurusaki Y,
Doi H,
Nakashima M,
Saitsu H,
Matsumoto N
J Med Genet
2021 Aug;58(8):505-513.
Epub 2020 Jul 30
doi: 10.1136/jmedgenet-2020-106896.
PMID: 32732225
Inuzuka LM,
Macedo-Souza LI,
Della-Rippa B,
Monteiro FP,
Delgado DS,
Godoy LF,
Ramos L,
de Athayde Costa LS,
Garzon E,
Kok F
Epileptic Disord
2020 Jun 1;22(3):317-322.
doi: 10.1684/epd.2020.1166.
PMID: 32597767