. Author manuscript; available in PMC: 2021 May 28.

Published in final edited form as: Nat Rev Neurosci. 2016 Nov 10;17(12):777–792. doi: 10.1038/nrn.2016.141

Table 1 |.

Network hypersynchrony in humans with FAD caused by mutations used in mouse models.

Affected genes	FAD mutations	Number of patients with seizures (study population percentage)	Age at onset of cognitive deficits, years (mean)	Refs
APP	KM670/671NL	10 (50%)	44–61 (53)	²⁴⁴
APP	V717L, V717G or V717I	11 (40%)	40–67 (51)	^245–248
APP	T714I or 714A	6 (85%)	33–55 (NA)	^249,250
APP	Duplication	27 (45%)	39–62 (NA)	^{144,145,251–253}
APP; PSEN1	KM670/671NL (APP); H163Y (PSEN1)	8 (89%)	44–65 (54)	²⁵⁴
PSEN1	M146L	7 (70%)	33–46 (39)	²⁵⁵
PSEN1	M146V	1 (100%)	39 (NA)	²⁵⁶
PSEN1	L286V	7 (64%)	39–56 (48)	²⁵⁷

APP, amyloid precursor protein; FAD, familial Alzheimer’s disease; NA, not available; PSEN1, presenilin-1.