Table 1.
Clinical information of patients with MEF2C (NM_001193350) mutation
| ID | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 |
|---|---|---|---|---|---|
| Sex | F | F | F | M | M |
| Mutation | c.48C > G, p.Asn16Lys | c.565C > T, p.Arg189* | c.334G > T, p.Glu112* | c.403-1G > T | c.766C > T, p.Arg256* |
| Origin | de novo | mother WT; father unknown | father WT; mother unknown | de novo | de novo |
| Age | 5y 9mo | 2 y, 6 mo | 2y 4mo | 7y 8mo | 6y 4 mo |
| Sz (age of onset) | Y (1y 10mo) | N | Y (9mo) | Y (1y) | Y (8mo) |
| Sz types | PS | – | FS | FS, PS, SE | FS |
| Response to AEDs | Seizure free for 4 months, with OXC, VPA, TPM | – | – | seizures free after 4 y, with VPA | seizures free 6y, with LEV, VPA |
| Motor development | Head control (8 mo), sit (12 mo), cannot walk | Head control (5 mo), sit (8 mo), cannot walk, head circumstance 48.5 cm (2y) | Head control (2 mo), sit (12 mo), walk (23 mo), abnormal gaits, head circumstance 45.3 cm (2y 4mo) | Head control (1y), sit (1y 2 mo), walk (1 y, 6 mo) | Head control (7 mo), sit (1y), walk (2y), head circumstance 52 cm (6y 4mo) |
| Cognitive outcome | Severe ID | Severe ID | Severe ID | Severe ID | Severe ID |
| Language | N | N | Unmeaningful murmur | N | 1 to 2 words |
| Poor eye-contact | Y | Y | Y | Y | Y |
| Repetitive behaviour | Y | Y | Y | Occassionlly | Occassionally |
| Poor hand skills | Y | Y | Y | Normal | Normal |
| Hypotonia | Y | Y | Y | N | N |
| Family history | N | N | N | N | N |
| EEG | Sharp-slow waves at right medial and posterior temporal, followed by generalization (2y, 11mo) | NA | Normal (2y, 4mo) | Sharp-and-slow waves around Pz(4y,1mo) | Normal (4 y) |
| MRI | enlargement of frontal subarachnoid space (1 y) | Long T1 and T2 signal at posterior horn of bilateral ventricle. | Hypomyelination (1y, 10 mo) | Normal (3y) | Long T1 and T2 signal around bilateral ventricle, septum pellucidum cyst (4y) |
| Other symptoms | hypalgesia | _ | Feeding difficulty, sleeping disturbance, irritability, recurrent respiratory infection, bruxism | No interest to others | No interest to others |
F, female; M, male; Y, yes; N, no; NA, not avaliable; ID, intellectual disability; VPA, valproate; LEV, levetriacetam; OXC, oxcarbazepine; TPM, topiramate; y, year; mo, month; AEDs, antiepileptic drugs