Citations for

1	ALG13, CDG1S, ECA5, GABRB3
	De novo mutations in epileptic encephalopathies.
	Epi4K Consortium; Epilepsy Phenome/Genome Project, Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, Johnson MR, Kuzniecky R, Lowenstein DH, Lu YF, Madou MR, Marson AG, Mefford HC, Esmaeeli Nieh S, O'Brien TJ, Ottman R, Petrovski S, Poduri A, Ruzzo EK, Scheffer IE, Sherr EH, Yuskaitis CJ, Abou-Khalil B, Alldredge BK, Bautista JF, Berkovic SF, Boro A, Cascino GD, Consalvo D, Crumrine P, Devinsky O, Dlugos D, Epstein MP, Fiol M, Fountain NB, French J, Friedman D, Geller EB, Glauser T, Glynn S, Haut SR, Hayward J, Helmers SL, Joshi S, Kanner A, Kirsch HE, Knowlton RC, Kossoff EH, Kuperman R, Kuzniecky R, Lowenstein DH, McGuire SM, Motika PV, Novotny EJ, Ottman R, Paolicchi JM, Parent JM, Park K, Poduri A, Scheffer IE, Shellhaas RA, Sherr EH, Shih JJ, Singh R, Sirven J, Smith MC, Sullivan J, Lin Thio L, Venkat A, Vining EP, Von Allmen GK, Weisenberg JL, Widdess-Walsh P, Winawer MR.
	Nature 501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11. 2013
2	ECA5, GABRB3
	Effects on promoter activity of common SNPs in 5' region of GABRB3 exon 1A.
	Tanaka M, Bailey JN, Bai D, Ishikawa-Brush Y, Delgado-Escueta AV, Olsen RW.
	Epilepsia 53(8):1450-6. doi: 10.1111/j.1528-1167.2012.03572.x. Epub 2012 Jul 5. 2012
3	ECA5, GABRB3
	GABRB3 mutation, G32R, associated with childhood absence epilepsy alters α1β3γ2L γ-aminobutyric acid type A (GABAA) receptor expression and channel gating.
	Gurba KN, Hernandez CC, Hu N, Macdonald RL.
	J Biol Chem 287(15):12083-97. doi: 10.1074/jbc.M111.332528. Epub 2012 Feb 2. 2012
4	ECA5, GABRB3
	Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.
	Tanaka M, Olsen RW, Medina MT, Schwartz E, Alonso ME, Duron RM, Castro-Ortega R, Martinez-Juarez IE, Pascual-Castroviejo I, Machado-Salas J, Silva R, Bailey JN, Bai D, Ochoa A, Jara-Prado A, Pineda G, Macdonald RL, Delgado-Escueta AV.
	Am J Hum Genet 82(6):1249-61. doi: 10.1016/j.ajhg.2008.04.020. 2008
5	ECA5, GABRB3
	A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity.
	Urak L, Feucht M, Fathi N, Hornik K, Fuchs K.
	Hum Mol Genet 15(16):2533-41. Epub 2006 Jul 11. Erratum in: Hum Mol Genet. 2006 Nov 1;15(21):3272. 2006