Table 1 Clinical data of the two patients with ATP1A2 mutations
Clinical data | Patient1 | Patient2 |
|---|---|---|
Sex | Male | Male |
Age of onset | 4 year | 1 year 7 month |
Hemiparesis | Yes | Yes |
Oculomotor abnormalities (nystagmus, gaze deviation, strabismus) | No | Yes |
Disappearance of symptoms with sleep | Yes | Yes |
Febrile convulsion | Yes | Yes |
Developmental delays | Yes | Yes |
Barin MRI | Abnormal | Abnormal |
EEG | Abnormal | Normal |
Cerebrospinal fluid (CSF) | Normal | Normal |
Liquid chromatography-tandem mass spectrometry method (LC/MS) | Normal | Normal |
Genotype | De novo missense variant c.970G>A, p.G324S | De novo missense variant c.889G>A, p.A297T |