Table 2.
Clinical characteristics of patients with CHD2 single-point DNA mutation a
| Characteristics | Rauch et al .[12] | Carvill et al .[11] | Allen et al .[13] | Suls et al .[28] | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gender |
F |
M |
F |
F |
M |
M |
M |
M |
M |
F |
M |
|
| Age (yr) |
5.75 |
17 |
12 |
29 |
12 |
15 |
2.5 |
Unknown |
6 |
24 |
6 |
|
| Protein change (type) |
p.Thr604 Leufs*19 (frame shift) |
p.Glu1412 Glyfs*64 (frame shift) |
p.Arg121* (frame shift) |
p.Gly491 Valfs*13 (frame shift) |
p.Arg1644 Lysfs*22 (frame shift) |
p.Trp548Arg (missense) |
p.Leu823Pro (missense) |
c.1502+1 G>A (splice donor) |
c.1810-2A>C (p.?) |
c.4971G>A (p.Trp1657*) |
c.1396C>T (p.Arg466*) |
|
| Inheritance |
De novo |
De novo |
De novo |
De novo |
De novo |
De novo |
De novo |
De novo |
De novo |
De novo |
De novo |
|
| Development |
Globally delayed |
Mild delay |
Normal prior to epilepsy |
Unspecified delay |
Normal before seizure onset |
Unspecified delay |
Unspecified delay |
Unspecified delay |
Normal prior to epilepsy |
Normal prior to epilepsy |
Subtle motor and speech delay |
|
| Cognition |
Mild ID |
Moderate ID |
Severe ID |
Severe ID |
Severe ID |
Moderate ID |
Severe ID |
Unknown |
Moderate ID |
Moderate ID |
Mild ID |
|
| Behaviour |
Uncontrolled behavioural anomalies |
ASD Behavioural problems |
Unknown |
Unknown |
Unknown |
Unknown |
ASD |
Unknown |
Unknown |
Unknown |
ASD |
|
| ADHD |
||||||||||||
| Seizure type (age of onset) |
AS (5 yr) |
AtS (1 yr), AS, FS, MJ, MJ-AS, TC |
MJ (1 yr), MA, NCS, TC, TS |
Atypical AS (1 yr), AtS, LGS, MJ, NCS, SE, TC, TS |
AtS (2 yr), MJ, SE, TC |
TC (3 yr), FDS, H, MJ |
MJ (2.5 yr), FDS, MJ, MA, TS |
TC (6 mo), Atypical AS, AtS, FDS, LGS, MS |
FS (14 mo), Atypical AS, MS, SE, TC |
FS (2 yr), MA, MS, TC |
TC (3.5 yr), Atypical AS, AtS, FS, H, MS |
|
| Brain MRI |
Unknown |
Unknown |
Unknown |
Unknown |
Unknown |
Unknown |
Unknown |
Normal |
Normal |
Normal |
Nonspecific atrophy |
|
| Other |
|
|
|
|
|
|
|
Right hemibody weakness |
Dysarthria |
|
Mild ataxia |
|
| Ataxia |
||||||||||||
| Other features | Duane anomaly | Language regression after corpus callosotomy | ||||||||||
aAS, Absence seizure; ASD, Autism spectrum disorder; AtS, Atonic seizure; FDS, Focal dyscognitive seizure; FS, Febrile seizure; H, Hemiclonic; ID, Intellectual disability; LGS, Lennox-Gastaut syndrome; MA, Myoclonic absence; MJ, Myoclonic jerk; MRI, Magnetic resonance imaging; MS, Myoclonic seizure; NCS, Nonconvulsive status; SE, Status epilepticus; TC, Tonic-clonic; TS, Tonic seizure.