TABLE 1.
Clinical characteristics of the patient with CNNM2 variant c.566A>G/p.Tyr189Cys
| Essential information | Patient | Reference values |
|---|---|---|
| Gender | Female | – |
| Age of onset | 4 months | – |
| Age of diagnosis | 6 months | – |
| Seizure type | Focal | – |
| Motor development | Unstable vertical head | – |
| Intellectual development | Mild mental retardation | – |
| Language development | No abnormality | – |
| Biochemical examination | ||
| Serum K+ (mmol/L) | 4.59 | 3.50–5.30 |
| Serum Na+ (mmol/L) | 138.59 | 137–147.00 |
| Serum Mg2+ (mmol/L) | 0.62↓ | 0.75–1.02 |
| Serum Ca2+ (mmol/L) | 1.92↓ | 2.11–2.52 |
| Serum P (mmol/L) | 1.88↑ | 0.85–1.51 |
| Urea (mmol/L) | 1.65↓ | 3.10–8.00 |
| Glucose (mmol/L) | 5.99 | 3.89–6.11 |
| Alanine transaminase (U/L) | 99.50↑ | 9.00–50.00 |
| Aspartate aminotransferase (U/L) | 138.5↑ | 15.0–40.0 |
| Alkaline phosphatase (U/L) | 201.7↑ | 45.0–125.0 |
| Creatine kinase isoenzyme MB (U/L) | 56↑ | 0–24 |
| Creatine kinase (U/L) | 197 | 50–310 |
| Lactate dehydrogenase (U/L) | 471.00↑ | 120.00–250.00 |
| Lactic acid (mmol/L) | 7.8↑ | 0.4–1.8 |
| Ceruloplasmin (g/L) | 0.19↓ | 0.30–0.65 |
| Imaging examination | ||
| EEG | No abnormality | – |
| Head MRI | No abnormality | – |
| Echocardiography | Atrial septal defect | – |
| ECG | Sinus arrhythmia, P–P interval difference > 0.12 s | – |
Abbreviations: ECG, electrocardiogram; EEG, electroencephalogram; MRI, magnetic resonance imaging.