Table 2.

Clinical and genetic features of patients with KCNQ2 mutations

Family, mutation	Sex; age (years)	Onset of seizures	Phenotype	Medication	Offset of seizures
Family 1, c.1910T>G p.L637R (Richards et al., 2004)	M; 38	Neonatal period	Apnoeic spells, convulsions	PHB; stopped by 3 years	First few months of life
	F; 26	Neonatal period	Apnoeic spells, convulsions	PHB; stopped by 1 year	First few months of life
Family 2, c.1684insGCCCT p.Y562fsX566 (Biervert et al., 1998)	M; 50	First few weeks of life	Convulsions	None known	First few weeks of life
	M; 29	Day 5	Apnoeic spells, convulsions	None known	Day 10
	F; 27	Day 3	Convulsions; FC at 2 months	PHB (briefly)	Age 2 months
	F; 27	Day 3	Convulsions; FC at 2 months	PHB (briefly)	Age 2 months
Family 3, deletion of exons 1–5 (Heron et al., 2007)	F; 58	5 days	Convulsions	PHB, PHT (stopped at 13 years)	Age 12 years
	F; 30	4 months	Apnoeic spells; Convulsions	PHB (stopped at 18 months)	5 months

F = female; FC = febrile convulsions; M = male; PHB = phenobarbitone; PHT = phenytoin.