Table 2.

Mouse models carrying orthologous variants (or equivalent) to human DEE and exhibiting seizure or comorbidity phenotypes.

Gene	DEE variant(s)		Seizure phenotype		Other neurological abnormalities				Reference
	Missense	LOFa	Spontaneouse	Susceptibility to inductione,f	Growthg	Cognitive	Social	Locomotorh
Ap3b2		✓	✓					✓	(Seong et al., 2005)
Arx	P355R, P355L	✓		✓	✓	✓			(Collombat et al., 2003; Kitamura et al., 2009)
Cacnala		✓	✓	✓	✓			✓	(Fletcher et al., 1996; Mark et al., 2011; Miki et al., 2008; Rose et al., 2014)
Cacna2d2		✓	✓d	✓	✓			✓	(Ivanov et al., 2004)
Cdkl5		✓		✓		✓	✓	✓	(Amendola et al., 2014; Wang et al., 2012)
Cplxl		✓	✓		✓			✓	(Reim et al., 2001)
Dnml	A408T (Ftfl)		✓	✓	✓			✓	(Aimiuwu et al., 2020; Asinof et al., 2015)
Gabral		✓	✓		✓				(Vicini et al., 2001)
Gabrb3	D120N		✓		✓	✓	✓	✓	(Qu et al., 2020)
Gnaol	G203R	✓		✓	✓		✓	✓	(Feng et al., 2019; Jiang et al., 1998)
Gnbl	K78R		✓	✓	✓	✓			(Colombo et al., 2019)
Grin2a	S644G		✓b	✓		✓		✓	(Amador et al., 2020)
Hnrnpu		✓		✓	✓				(Dugger et al., 2020; Ye et al., 2015)
Iqsec2	A350V	✓	✓c		✓	✓	✓	✓	(Rogers et al., 2019; Sah et al., 2020)
Kcna2		✓	✓	✓	✓				(Brew et al., 2007)
Kcntl	Y796H, R474H, P924L		✓	✓		✓		✓	(Quraishi et al., 2020; Shore et al., 2020)
Mecp2	R106Q, T158A, Y120D, A140V, P225R, R306C, T158M, R106W, P225R, P322L	✓	✓b,c	✓	✓	✓	✓	✓	(Dong et al., 2020; Gandaglia et al., 2019; Shahbazian et al., 2002; Zhang et al., 2014)
Pcdhl9		✓	✓d		✓				(Pederick et al., 2018; Uemura et al., 2007)
Plcbl		✓	✓	✓	✓	✓		✓	(Kim et al., 1997)
Scnla	R1648H, A1783V	✓	✓b,c	✓	✓	✓		✓	(Kuo et al., 2019; Martin et al., 2010; Tsai et al., 2015)
Scnlb	C121W	✓	✓b,c	✓	✓				(Kruger et al., 2016; Wimmer et al., 2010)
Scn8a	R1872W, N1768D	✓	✓b,c		✓			✓	(Bunton-Stasyshyn et al., 2019; Jones and Meisler, 2014; Wagnon et al., 2015)
Slcl2a5		✓	✓	✓	✓				(Silayeva et al., 2015; Woo et al., 2002)
Stxbpl		✓	✓			✓	✓	✓	(Chen et al., 2020)
Synjl		✓	✓		✓			✓	(Cremona et al., 1999; Wimmer et al., 2010)
Szt2		✓	✓	✓					(Frankel et al., 2009)
Tbcld24		✓	✓						(Tona et al., 2019)

^aOne or more knockout or hypomorphic mouse mutation has been described.

^bObserved in one or more missense mutation.

^cObserved in one or more LOF or hypomorphic mutation.

^dSpike-wave discharges (SWD) only.

^eBlank cells mean either not tested or not susceptible.

^fMay include pentylenetetrazole, kainic acid, electroconvulsive, audiogenic, fluorothyl or febrile stimuli.

^gMay include growth delay, reduced body weight, small stature.

^hMay include ataxia, dystonia, hyperactivity, hypoactivity.