Table 1.

Clinical characteristics of patients carrying DEPDC5 mutations from four families with familial focal epilepsy.

No	Age (onset)	Gender	Type of epilepsy	Intellectual disability	AED (used)	Effective AED	Drug resistant	VEEG	MRI	DEPDC5 mutation
Family1
II-6	20 years	M	FLE	N	OXC, PB, PHT		Yes	ND	N	c.280-1G>A
III-7	3 months	F	TLE	N	CBZ, LTG, VPA, CZP		Yes	Sharp wave in the right anterior and middle temporal	N	c.280-1G>A
IV-5	3 months	F	OLE	Y	OXC, VPA, LTG, PB, PHT		Yes	Occasional low-to-medium amplitude spikes on both sides of the frontal and central	N	c.280-1G>A
Family2
IV-2	24 years	M	OLE	N	OXC	OXC	No	Left occipital sharp wave	N	c.1729G>A
Family3
III-1	2 years	M	TLE	N	LEV, OXC	LEV, OXC	No	Sharp waves in the left frontal pole, anterior temporal, and sphenoid electrodes	N	c.515_516delinsT
Family4
I-1	45 years	F	FLE	N			No	ND	ND	c.3260G>A
II-1	5 years	F	FE	N	CBZ	CBZ	No	ND	ND	c.3260G>A
II-2	9 years	M	FLE	N	VPA, LTG, PB, PHT, CBZ		Yes	Mild abnormalities	N	c.3260G>A

F, female; M, male; N, normal; OXC, oxcarbazepine; PB, phenobarbital; PHT, phenytoin; VPA, valproate; LEV, levetiracetam; CBZ, carbamazepine; LTG, lamotrigine; CZP, clonazepam; FLE, frontal lobe epilepsy; TLE, temporal lobe epilepsy; OLE, occipital lobe epilepsy; PLE, parietal lobe epilepsy; FE, focal epilepsy; ND, not done; AED, anti-epileptic drug; VEEG, video-electroencephalogram.