Etiology
Quattrocchi CC,
Zanni G,
Napolitano A,
Longo D,
Cordelli DM,
Barresi S,
Randisi F,
Valente EM,
Verdolotti T,
Genovese E,
Specchio N,
Vitiello G,
Spiegel R,
Bertini E,
Bernardi B
Neurogenetics
2013 Feb;14(1):77-83.
Epub 2012 Dec 30
doi: 10.1007/s10048-012-0352-7.
PMID: 23274687
Jin Z,
Luo R,
Piao X
Prog Mol Biol Transl Sci
2009;89:1-13.
Epub 2009 Oct 7
doi: 10.1016/S1877-1173(09)89001-7.
PMID: 20374731
Guerrini R,
Marini C
Exp Brain Res
2006 Aug;173(2):322-33.
Epub 2006 May 25
doi: 10.1007/s00221-006-0501-z.
PMID: 16724181
Diagnosis
Jain P,
Sharma S,
Bahi-Buisson N,
Beldjord C,
Aneja S
Indian J Pediatr
2015 Apr;82(4):390-1.
Epub 2014 Nov 23
doi: 10.1007/s12098-014-1614-1.
PMID: 25416088
Jansen A,
Andermann E
J Med Genet
2005 May;42(5):369-78.
doi: 10.1136/jmg.2004.023952.
PMID: 15863665Free PMC Article
Chang BS,
Piao X,
Giannini C,
Cascino GD,
Scheffer I,
Woods CG,
Topcu M,
Tezcan K,
Bodell A,
Leventer RJ,
Barkovich AJ,
Grant PE,
Walsh CA
Neurology
2004 May 25;62(10):1722-8.
doi: 10.1212/01.wnl.0000125187.52952.e9.
PMID: 15159468
Chang BS,
Piao X,
Bodell A,
Basel-Vanagaite L,
Straussberg R,
Dobyns WB,
Qasrawi B,
Winter RM,
Innes AM,
Voit T,
Grant PE,
Barkovich AJ,
Walsh CA
Ann Neurol
2003 May;53(5):596-606.
doi: 10.1002/ana.10520.
PMID: 12730993
Sztriha L,
Nork M
Eur J Paediatr Neurol
2002;6(4):229-32.
doi: 10.1053/ejpn.2002.0599.
PMID: 12374591
Therapy
Jain P,
Sharma S,
Bahi-Buisson N,
Beldjord C,
Aneja S
Indian J Pediatr
2015 Apr;82(4):390-1.
Epub 2014 Nov 23
doi: 10.1007/s12098-014-1614-1.
PMID: 25416088
Prognosis
Kuo CY,
Tsai MH,
Lin HH,
Wang YC,
Singh AK,
Chang CC,
Lin JJ,
Hung PC,
Lin KL
Epilepsia Open
2023 Mar;8(1):154-164.
Epub 2023 Jan 11
doi: 10.1002/epi4.12685.
PMID: 36524291Free PMC Article
Bahi-Buisson N,
Poirier K,
Boddaert N,
Fallet-Bianco C,
Specchio N,
Bertini E,
Caglayan O,
Lascelles K,
Elie C,
Rambaud J,
Baulac M,
An I,
Dias P,
des Portes V,
Moutard ML,
Soufflet C,
El Maleh M,
Beldjord C,
Villard L,
Chelly J
Brain
2010 Nov;133(11):3194-209.
Epub 2010 Oct 7
doi: 10.1093/brain/awq259.
PMID: 20929962
Parrini E,
Ferrari AR,
Dorn T,
Walsh CA,
Guerrini R
Epilepsia
2009 Jun;50(6):1344-53.
Epub 2008 Oct 6
doi: 10.1111/j.1528-1167.2008.01787.x.
PMID: 19016831Free PMC Article
Ke N,
Ma H,
Diedrich G,
Chionis J,
Liu G,
Yu DH,
Wong-Staal F,
Li QX
Biochem Biophys Res Commun
2008 Feb 8;366(2):314-20.
Epub 2007 Nov 26
doi: 10.1016/j.bbrc.2007.11.071.
PMID: 18042463
Chang BS,
Piao X,
Giannini C,
Cascino GD,
Scheffer I,
Woods CG,
Topcu M,
Tezcan K,
Bodell A,
Leventer RJ,
Barkovich AJ,
Grant PE,
Walsh CA
Neurology
2004 May 25;62(10):1722-8.
doi: 10.1212/01.wnl.0000125187.52952.e9.
PMID: 15159468
Clinical prediction guides
Khan S,
Umair M,
Abbas S,
Ali U,
Zaman G,
Ansar M,
Wang R,
Zhang X,
Houlden H,
Harlalka GV,
Gul A
J Gene Med
2023 Oct;25(10):e3513.
Epub 2023 May 13
doi: 10.1002/jgm.3513.
PMID: 37178061
Kuo CY,
Tsai MH,
Lin HH,
Wang YC,
Singh AK,
Chang CC,
Lin JJ,
Hung PC,
Lin KL
Epilepsia Open
2023 Mar;8(1):154-164.
Epub 2023 Jan 11
doi: 10.1002/epi4.12685.
PMID: 36524291Free PMC Article
Jin Z,
Luo R,
Piao X
Prog Mol Biol Transl Sci
2009;89:1-13.
Epub 2009 Oct 7
doi: 10.1016/S1877-1173(09)89001-7.
PMID: 20374731
Parrini E,
Ferrari AR,
Dorn T,
Walsh CA,
Guerrini R
Epilepsia
2009 Jun;50(6):1344-53.
Epub 2008 Oct 6
doi: 10.1111/j.1528-1167.2008.01787.x.
PMID: 19016831Free PMC Article
Chang BS,
Piao X,
Bodell A,
Basel-Vanagaite L,
Straussberg R,
Dobyns WB,
Qasrawi B,
Winter RM,
Innes AM,
Voit T,
Grant PE,
Barkovich AJ,
Walsh CA
Ann Neurol
2003 May;53(5):596-606.
doi: 10.1002/ana.10520.
PMID: 12730993