Patient 1	Patient 2
Gender	m	f
Mutations	c.322T>C / с.643G>A	c.148C>T / c.925T>A
Short stature	+	-
Hearing loss, sensorineural	ND	-
Salt craving	ND	-
Renal potassium wasting	+	-
Seizures	+	+
Psychomotor delay	+	-
Mental retardation	+	-
Ataxia	+	+
Ability to walk	-	+
Poor speech development	+	-
Intention tremor	+	+
Metabolic alkalosis	-	-
Hypokalemia	+	-
Increased plasma renin	+	-
Increased plasma aldosterone	+	-
Onset of seizures	3m	4y11m
Brain MRI	cortical-subcortical brain atrophy	subatrophic changes in the brain
EEG monitoring	epileptic activity in the occipital lobes	no typical epileptiform discharges