Table 2: Clinical features of DS patients, transmitting parents and relatives (for GEFS+ families)
Fam.Nb / Patient / Gender / Age at Exam(years) / Age at onset (months) / Seizures at onset / FS / Types of afebrile seizures / Myocl / SE / Pharmaco-
resistance / Delay / Clin. Diag.
1 / Proband
Father / M
M / 17 y
40 y / 9m
>1 y / Myocl
GTCS / +
+ / Abs, GTCS
GTCS / +
+ / yes
- / yes
- / Sev
mild / DS
FS+?
2 / Proband
Father / M
M / 16y
45 y / 9 m
32 y / GTCS
GTCS / +
- / Abs, HCS,
ParS
GTCS / Y
- / yes
- / yes
- / Mod/Sev- / DS
Single TCGS
3 / Proband
Sister / M
F / Deceased at 23 y (SE)
28 y / 3 m
3 m / GTCS
GTCS / +
+ / HCS, GTCS,Abs
HCS, GTCS, ParS / +
+ / Yes
Yes / Yes
Yes / Mod
Mod / DS
DS
4 / Proband
Sister / F
F / 20 y
23 y / 5 m
6 m / HCS
GTCS / +
+ / HCS, GTCS
GTCS, Tonic Sz, Abs / +
- / No
No / Yes
Yes / Sev
Sev / DS
DS
5 / Proband
Mother / M
F / 5y
28y / 8 m
10 y / GTCS
ParS / +
+ / Atonic S, PartS, GTCS,
GTCS, ParS / -
- / Yes
No / Yes
Yes / Mod
Mild / DS
FS+
6 / Proband / M / 9 y / 7 m / GTCS / + / GTCS, ParS / No / Yes / Yes / Mod / DS
7 / Proband
Father / F
M / 22 y
48 y / 5 m
Childhood / HCS
GTCS / +
- / HCS, ParS
GTCS / No
No / Yes
No / Yes
No (cessation during adolescence) / Mod/Sev
None / DS
IGE
8 / Proband
Sister
Mother / F
F
F / 20 y
12 y
53 y / 3 m
6 m
10 m / FS
FS
FS / +
+
+ / GTCS, Abs
GTCS
GTCS / No
No
No / Yes
?
No / Yes
Yes
No / Mod/Sev
Mod
No / DS
DS
IGE
9 / Proband / M / 3.5 y / 4 m / HCS / + / GTCS, Abs / No / Yes / Yes / Mod / DS
10 / Proband / M / 5 y / 5 m / GTCS / + / GTCS, Abs / No / Yes / Yes / Mod/Sev / DS
11 / Proband
Sister / M
F / 38 y
36 y / 5 m
6 m / HCS
SE / +
+ / GTCS, HCS, Abs
GTCS, Abs / +
+ / No
Yes / Yes
Yes / Mod/Sev
Mod/Sev / DS
DS
12 / Proband
Elder brother / F
M / 10 y
? / 8 m
? / GTCS, HCS / FS+
FS+ / GTCS, Abs, ParS
GTCS? / No
No / Yes
No / Yes
No / Mod/Sev
No / DS
IGE
13 / Proband
Brother / M
M / 10 y
6 y / 6 m
6 m / GTCS, HCS
GTSC, HCS / +
+ / GTCS,Abs
GTCS, / No
No / Yes
Yes / Yes
Yes / Mod
Mod / DS
DS
14 / Proband
Father
Sister / F
M
F / 3 y
47 y
6 y / 9 m
infancy
infancy / FS (SE)
?
FS / FS+
?
+ / GTCS, ParS, Abs
GTCS
None / No
?
No / Yes
?
No / Yes
Yes
No / Mild
?
No / DS
IGE
FS
15 / Proband
Father / F
M / 5 y / 6 m / GTCS / FS+ / GTCS, Abs / Yes / Yes / Yes / Mod / DS
16 / Proband
Mother
Gd-mother / F
F
F / 3.5 y
32 y
58 y / 9 m
2 y
? / HCS
?
? / FS+
?
? / GTCS, ParS
?
? / No
?
? / Yes
?
? / Yes
Not treated
No / Mild
No
No / DS
IGE?
IGE?
17 / Proband
Brother / M
M / 10 y
9 y / 10 m
11 m / GTCS
GTCS / ?
+ / GTCS,
- / No
No / Yes
No / Yes?
No / Mod
No / DS
IGE
18 / Proband
Mother
Sister
Brother / M
F
F
M / 6 y
36 y
13 y
16 y / 6.5 m
>1 yr
>1 yr / GTCS, HCS
FS
FS / FS+
1 FS (3 y)
FS
FS+ / GTCS, Abs
GTCS
GTCS / Yes
No
No / Yes
No
No / Yes
No
No / Mod
Mild
No / DS
FS
IGE
IGE
19 / Proband
Mother
Rel1
Rel2
Rel3
Rel4
Rel5 / M
F
F
F
F
F
F / 10 y
39 y
25 y
44 y
39 y
39 y
64 y / 7 m
?
2 y
2 y
?
6 m
? / GTCS
GTCS
GTCS
GTCS
GTCS
GTCS
? / +
+
+ (FS +)
+ (3 FS)
+
+
+ / GTCS, HCS, ParS
GTCS
GTCS
No
GTCS, Abs
GTCS, Abs
GTC / Yes
Yes
Yes
No
Yes
Yes
Yes / No
No
No
No
No
No
No / Yes until 6 y then cessation of seizures
Cessation of Sz 10 y No
No
No
No
No / Initially sev. for language, now mod
Mild
Mild
No
No
No
No / DS
IFS + IGE
FS +
JME
FS
FS+ JME
sFS + JME
FS + IGE
DS: Dravet syndrome; M: Male; F: Female; FS: Febrile seizures; FS+: febrile seizures prolonged after 6 years of age; HCS: Hemiclonic Seizures; GTCS: Generalized Tonic Clonic Seizures; ParS: Partial seizures; SE: Status Epilepticus; Myocl: Myoclonic jerks; Abs: atypical absences; Mod: moderate; Sev: severe Clin. Diag.: Clinical diagnosis; IGE: idiopathic generalized epilepsy; JME: Juvenile myoclonic epilepsy.