Table 1.

Human AD Gene Mutations Leading to Elevated Aβ and Epilepsy

Gene	Mutation	Phenotype	Reference
APP	Val1717gly	seizures	Rossor et al, 1993
APP	Thr714Ala	seizures	Lindquist et al, 2008
APP	duplication	seizures	Cabrejo et al, 2006
APP	Trisomy 21	seizures	Menedez et al, 2005
Presenilin 1	M139V	seizures	Fox et al, 1997
Presenilin 1	1S169L	seizures	Takao et al, 2001
Presenilin 1	L420R	seizures	Shrimpton et al, 2007
Presenilin 1	E280A	seizures	Velez-Pardo et al, 2004
Presenilin 1	multiple	seizures	Larner, 2010
Presenilin 2	M239V	seizures	Marcon et al, 2005
Presenilin 2	N141L	seizures	Jayadev et al, 2010