Altered GABA Signaling in Early Life Epilepsies

Table 2

Phenotype of CCC mutations.

CCC	Location	Mutation	Species	Neurological effect	Ref.
KCC1	Ubiquitous	Knockout	Mouse	None seen	[92]
KCC2	Brain	KCC2a and KCC2b knockout	Mouse	Death at birth	[93]
	Brain	KCC2b knockout	Mouse	Seizures, low weight, early mortality	[94]
	Brain	Hypomorph	Mouse	Increased seizure susceptibility and anxiety	[95]
	Brain	Heterozygote	Mouse	Hyperexcitability	[96]
KCC3	Ubiquitous	KCC3a-c knockout	Human, mouse	Peripheral neuropathy; seizures have been reported	[97–100]
KCC4	Kidney, heart, lungs, liver	Knockout	Mouse	Deafness	[101]
NKCC1	Ubiquitous	NKCC1a knockout	Mouse	Deafness, circling behavior	[102]
	Ubiquitous	NKCC1a and NKCC1b knockout	Mouse	Deafness, circling behavior, growth retardation, defective spermatogenesis, increased threshold to thermal stimulation	[103, 104]
NKCC2	Kidney	Knockout	Human	Bartter’s syndrome	[105]