Etiology
Alsubhi S,
Berrahmoune S,
Dudley RWR,
Dufresne D,
Simard Tremblay E,
Srour M,
Myers KA
J Neurol
2024 May;271(5):2503-2508.
Epub 2024 Jan 23
doi: 10.1007/s00415-023-12174-3.
PMID: 38261030
Fiot E,
Alauze B,
Donadille B,
Samara-Boustani D,
Houang M,
De Filippo G,
Bachelot A,
Delcour C,
Beyler C,
Bois E,
Bourrat E,
Bui Quoc E,
Bourcigaux N,
Chaussain C,
Cohen A,
Cohen-Solal M,
Da Costa S,
Dossier C,
Ederhy S,
Elmaleh M,
Iserin L,
Lengliné H,
Poujol-Robert A,
Roulot D,
Viala J,
Albarel F,
Bismuth E,
Bernard V,
Bouvattier C,
Brac A,
Bretones P,
Chabbert-Buffet N,
Chanson P,
Coutant R,
de Warren M,
Demaret B,
Duranteau L,
Eustache F,
Gautheret L,
Gelwane G,
Gourbesville C,
Grynberg M,
Gueniche K,
Jorgensen C,
Kerlan V,
Lebrun C,
Lefevre C,
Lorenzini F,
Manouvrier S,
Pienkowski C,
Reynaud R,
Reznik Y,
Siffroi JP,
Tabet AC,
Tauber M,
Vautier V,
Tauveron I,
Wambre S,
Zenaty D,
Netchine I,
Polak M,
Touraine P,
Carel JC,
Christin-Maitre S,
Léger J
Orphanet J Rare Dis
2022 Jul 12;17(Suppl 1):261.
doi: 10.1186/s13023-022-02423-5.
PMID: 35821070Free PMC Article
Hajtovic S,
LoPresti MA,
Zhang L,
Katlowitz KA,
Kizek DJ,
Lam S
J Neurosurg Pediatr
2022 Jun 1;29(6):667-680.
Epub 2022 Mar 18
doi: 10.3171/2022.1.PEDS222.
PMID: 35303699
Hirano Y,
Oguni H,
Nagata S
Brain Dev
2016 Sep;38(8):746-9.
Epub 2016 Mar 12
doi: 10.1016/j.braindev.2016.02.013.
PMID: 26980640
Shah KN
Pediatr Clin North Am
2010 Oct;57(5):1131-53.
doi: 10.1016/j.pcl.2010.07.002.
PMID: 20888463
Diagnosis
Fiot E,
Alauze B,
Donadille B,
Samara-Boustani D,
Houang M,
De Filippo G,
Bachelot A,
Delcour C,
Beyler C,
Bois E,
Bourrat E,
Bui Quoc E,
Bourcigaux N,
Chaussain C,
Cohen A,
Cohen-Solal M,
Da Costa S,
Dossier C,
Ederhy S,
Elmaleh M,
Iserin L,
Lengliné H,
Poujol-Robert A,
Roulot D,
Viala J,
Albarel F,
Bismuth E,
Bernard V,
Bouvattier C,
Brac A,
Bretones P,
Chabbert-Buffet N,
Chanson P,
Coutant R,
de Warren M,
Demaret B,
Duranteau L,
Eustache F,
Gautheret L,
Gelwane G,
Gourbesville C,
Grynberg M,
Gueniche K,
Jorgensen C,
Kerlan V,
Lebrun C,
Lefevre C,
Lorenzini F,
Manouvrier S,
Pienkowski C,
Reynaud R,
Reznik Y,
Siffroi JP,
Tabet AC,
Tauber M,
Vautier V,
Tauveron I,
Wambre S,
Zenaty D,
Netchine I,
Polak M,
Touraine P,
Carel JC,
Christin-Maitre S,
Léger J
Orphanet J Rare Dis
2022 Jul 12;17(Suppl 1):261.
doi: 10.1186/s13023-022-02423-5.
PMID: 35821070Free PMC Article
Mantere T,
Neveling K,
Pebrel-Richard C,
Benoist M,
van der Zande G,
Kater-Baats E,
Baatout I,
van Beek R,
Yammine T,
Oorsprong M,
Hsoumi F,
Olde-Weghuis D,
Majdali W,
Vermeulen S,
Pauper M,
Lebbar A,
Stevens-Kroef M,
Sanlaville D,
Dupont JM,
Smeets D,
Hoischen A,
Schluth-Bolard C,
El Khattabi L
Am J Hum Genet
2021 Aug 5;108(8):1409-1422.
Epub 2021 Jul 7
doi: 10.1016/j.ajhg.2021.05.012.
PMID: 34237280Free PMC Article
Anderson S
J Pediatr Health Care
2020 Jan-Feb;34(1):71-81.
doi: 10.1016/j.pedhc.2019.05.001.
PMID: 31831114
Chen CP,
Tsai CH,
Chern SR,
Wu PS,
Su JW,
Lee CC,
Chen YT,
Chen WL,
Chen LF,
Wang W
Gene
2013 Oct 15;529(1):163-8.
Epub 2013 Aug 8
doi: 10.1016/j.gene.2013.07.050.
PMID: 23933417
Chen CP,
Chen M,
Su YN,
Huang JP,
Chern SR,
Wu PS,
Su JW,
Chang SP,
Chen YT,
Lee CC,
Chen LF,
Pan CW,
Wang W
Gene
2013 Oct 15;529(1):169-75.
Epub 2013 Aug 7
doi: 10.1016/j.gene.2013.07.048.
PMID: 23933412
Therapy
Hajtovic S,
LoPresti MA,
Zhang L,
Katlowitz KA,
Kizek DJ,
Lam S
J Neurosurg Pediatr
2022 Jun 1;29(6):667-680.
Epub 2022 Mar 18
doi: 10.3171/2022.1.PEDS222.
PMID: 35303699
Kishore VK,
Viswanathan LG,
Asranna A,
Kenchiah R,
Chowdary M R,
Sinha S
Seizure
2022 Mar;96:118-120.
Epub 2022 Feb 5
doi: 10.1016/j.seizure.2022.01.018.
PMID: 35196643
Hirano Y,
Oguni H,
Nagata S
Brain Dev
2016 Sep;38(8):746-9.
Epub 2016 Mar 12
doi: 10.1016/j.braindev.2016.02.013.
PMID: 26980640
Elens I,
Vanrykel K,
De Waele L,
Jansen K,
Segeren M,
Van Paesschen W,
Ceulemans B,
Boel M,
Frijns JP,
Buyse G,
Lagae L
Epilepsy Behav
2012 Apr;23(4):409-14.
Epub 2012 Mar 15
doi: 10.1016/j.yebeh.2012.02.008.
PMID: 22424860
Bouilleret V,
Semah F,
Biraben A,
Taussig D,
Chassoux F,
Syrota A,
Ribeiro MJ
J Nucl Med
2005 Mar;46(3):540-7.
PMID: 15750171
Prognosis
Barbour K,
Tian N,
Yozawitz EG,
Wolf S,
McGoldrick PE,
Sands TT,
Nelson A,
Basma N,
Grinspan ZM
Epilepsia
2024 Aug;65(8):2341-2353.
Epub 2024 May 25
doi: 10.1111/epi.18029.
PMID: 38795333Free PMC Article
Quintas S,
Sanles-Falagan R,
Berbís MÁ
Mov Disord Clin Pract
2024 Jun;11(6):613-625.
Epub 2024 May 1
doi: 10.1002/mdc3.14055.
PMID: 38693679Free PMC Article
Hirano Y,
Oguni H,
Nagata S
Brain Dev
2016 Sep;38(8):746-9.
Epub 2016 Mar 12
doi: 10.1016/j.braindev.2016.02.013.
PMID: 26980640
Phelan MC
Orphanet J Rare Dis
2008 May 27;3:14.
doi: 10.1186/1750-1172-3-14.
PMID: 18505557Free PMC Article
Kobayashi K,
Usami I,
Kubota M,
Nishio T,
Kakazu N
Cancer Genet Cytogenet
2005 Apr 15;158(2):184-7.
doi: 10.1016/j.cancergencyto.2004.08.036.
PMID: 15796967
Clinical prediction guides
Fiot E,
Alauze B,
Donadille B,
Samara-Boustani D,
Houang M,
De Filippo G,
Bachelot A,
Delcour C,
Beyler C,
Bois E,
Bourrat E,
Bui Quoc E,
Bourcigaux N,
Chaussain C,
Cohen A,
Cohen-Solal M,
Da Costa S,
Dossier C,
Ederhy S,
Elmaleh M,
Iserin L,
Lengliné H,
Poujol-Robert A,
Roulot D,
Viala J,
Albarel F,
Bismuth E,
Bernard V,
Bouvattier C,
Brac A,
Bretones P,
Chabbert-Buffet N,
Chanson P,
Coutant R,
de Warren M,
Demaret B,
Duranteau L,
Eustache F,
Gautheret L,
Gelwane G,
Gourbesville C,
Grynberg M,
Gueniche K,
Jorgensen C,
Kerlan V,
Lebrun C,
Lefevre C,
Lorenzini F,
Manouvrier S,
Pienkowski C,
Reynaud R,
Reznik Y,
Siffroi JP,
Tabet AC,
Tauber M,
Vautier V,
Tauveron I,
Wambre S,
Zenaty D,
Netchine I,
Polak M,
Touraine P,
Carel JC,
Christin-Maitre S,
Léger J
Orphanet J Rare Dis
2022 Jul 12;17(Suppl 1):261.
doi: 10.1186/s13023-022-02423-5.
PMID: 35821070Free PMC Article
Daber RD,
Conlin LK,
Leonard LD,
Canevini MP,
Vignoli A,
Hosain S,
Brown LW,
Spinner NB
Eur J Med Genet
2012 May;55(5):381-7.
Epub 2012 Feb 22
doi: 10.1016/j.ejmg.2012.02.004.
PMID: 22406087
Letsolo BT,
Rowson J,
Baird DM
Nucleic Acids Res
2010 Apr;38(6):1841-52.
Epub 2009 Dec 21
doi: 10.1093/nar/gkp1183.
PMID: 20026586Free PMC Article
Bouilleret V,
Semah F,
Biraben A,
Taussig D,
Chassoux F,
Syrota A,
Ribeiro MJ
J Nucl Med
2005 Mar;46(3):540-7.
PMID: 15750171
Teyssier M,
Charrin C,
Corgiolu Theuil G,
David L
Ann Genet
1992;35(2):75-8.
PMID: 1381884