Table 1.

Epileptic mechanisms in Alzheimer’s disease.

Gene	Mutation/Variants	Models	Postulated Mechanisms	Channel Function	Phenotypes	References
GABRG2	Q390X	cells	Impaired oligomerization, ER retention	reduced	GEFS+, DS	[30]
GABRG2	R82Q	cells	Impaired oligomerization, ER Retention	reduced	FS, CAE	[117]
GABRG2	Q390X, W429X, W461X	cells	Impaired oligomerization, ER Retention	reduced	FS, GEFS+, DS	[77]
GABRG2	Q390X	mice	ER rentention, dominant negative suppression	reduced		[62]
GABRG2	Q390X	Mice	protein accumulation, aggregation	reduced	GEFS+, DS	[118]
GABRG2	Q390X	mice	increased neuroinflamamtion	reduced	DS	[79]
GABRG2	IVS6+2T->G	cell mice	NMD, ERAD	reduced	CAE, FS	[119]
GABRG2	A106T, I107T, P282S, etc.	cell	ERAD, ER retention	reduced	DEE	[120]
GABRG2	S443delC	cells	ERAD, ER retention?	reduced	GEFS+	[121]
GABRB3	N328D	cells	ERAD, ER retention	reduced	LGS	[74]
GABRB3	E357K	cells	ERAD, ER retention	reduced	JAE	[74]
GABRA1	A322D	cells	ERAD, ER retention	reduced	JME	[122]
SLC6A1	G234S	cells	ERAD, ER retention	reduced	DS	[51]
SLC6A1	P361T	cells	ERAD, ER retention	reduced	autism, CAE	[52]
SLC6A1	V125M	cells	ERAD, ER Retention	reduced	CAE, ADHD	[123]
SLC6A1	22 mutations	cells	ER Retention, dominant negative effect?	reduced	various phenotypes	[53]

Abbreviations: CAE = childhood absence epilepsy; FS = febrile seizures; GEFS+ = generalized epilepsy with febrile seizures plus; DEE = developmental epileptic encephalopathy; LGS = Lennox-Gastaut syndrome, DS = Dravet syndrome; JAE = juvenile absence epilepsy; ADHD = attention deficit hyperactivity disorder.