Table.

Clinical Features and Ictal Central Apnea of DEPDC5 Patients

	Patient # 1	Patient # 2	Patient # 3	Patient # 4	Patient # 5
Age, y/sex	24/f	21/f	24/m	58/m	55/f
Epilepsy onset, yrs	3	8	11	3	10
Prevalent seizure type	FIAS	FIAS	FIAS	FIAS	FIAS
ASMs at last follow-up	BRV, VPA	CBZ, LEV	CBZ	VPA, LTG, CNB	LCM
Drug resistance	Yes	Yes	No	Yes	Yes
Interictal EEG	Left temporal slow waves and spikes	Bilateral frontotemporal slow spike and waves	Bilateral frontocentral slow spike and waves	Right temporal slow waves and spikes	Left temporal slow waves and spikes
Epilepsy family history	No	Yes, proband mother	Yes, proband paternal grandfather	Yes, proband paternal uncle	No
SUDEP family history	No	No	No	No	No
Brain MRI	Suspected left insular/mesial temporal FCD	Negative	Negative	Negative	Negative
FDG-PET	n.a.	Left fronto-opercular hypometabolism	n.a.	n.a.	Left temporal hypometabolism
DEPDC5 pathogenic variant	c.2856T>A, p.Cys952Ter	c.3244G>A, p.Thr1248	c.947-1G>A,	c.1759C>T, p.Arg587Ter	c.1383del, p.Tyr462Metfs*55
Ictal central apnea
No. of seizures with apnea/total recorded seizures	4/4	1/1	3/3	6/6	1/1
Scalp EEG ictal onset (lobe/side)	T/left	FT/bilateral	F/left	T/right	T/left
Seizure duration (mean, sec.)	89	70	43	34.5	30
Apnea duration (mean, sec.)	77	60	35	26	25
Latency of ICA from ictal onset (mean, s)	4 s	2 s	0 s	3 s	4 s
Oxygen desaturation nadir	71%	75%	n.a.	n.a.	92%
Heart rate changes	Tachycardia	—	—	Tachycardia	Tachycardia
Vigilance at seizure onset	Sleep	Awake	Sleep	Sleep	Sleep
Awareness of respiratory distress	No	No	No	No	No

Abbreviations: BRV = brivaracetam; CBZ = carbamazepine; CNB = cenobamate; F = frontal; FIAS = focal impaired awareness seizures; FT = frontotemporal; LCM = lacosamide; LEV = levetiracetam; LTG = lamotrigine; SUDEP = sudden unexplained death in epilepsy; T = temporal; VPA = valproate.