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Table 1 Clinical data of the two patients with ATP1A2 mutations

From: De novo ATP1A2 variants in two Chinese children with alternating hemiplegia of childhood upgraded the gene–disease relationship and variant classification: a case report

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