Table 1. ATP1A3 mutations and clinical features of patients with alternating hemiplegic of childhood.
| ID | Sex | Nucleotide change | Amino acid change | Father | Mother | Age at lastassessment | Age of onset | First symptom | Hemiplegic (onset age, duration, frequency) | Quadriplegia | Abnormal eye movement | Dystonia | Epilepsy | Developmental delay | Treatment effect of flunarizine |
| A02103 | F | c.410C>A | S137Y | − | − | 3 y9 m | 2 m | abnormal eye movement | 2 m, 1∼3 d, 1∼3 per m | + | + | + | − | + | − |
| A01903 | F | c.1109C>A | T370N | − | − | 11 y11 m | 12 m | hemiplegia | 12 m, 3∼4 d, NA | + | + | + | − | + | NA |
| A05003 | M | c.2116G>A | G706R | − | − | 8 y | 2 m | abnormal eye movement | 38 m, 1 h∼7 d, 4∼5 per m | + | + | + | − | + | + |
| A03203 | M | c.2263G>A | G755S | − | − | 1 y4 m | 3 m | abnormal eye movement | 7 m, 2 d, 4∼7 per m | − | + | + | − | + | + |
| A06403 | M | c.2263G>T | G755C | − | − | 4 y1 m | 1.5 m | abnormal eye movement | 10 m, 1∼5 d, 2∼3 per m | + | + | + | − | + | Untreated |
| A02603 | M | c.2312C>A | T771N | − | − | 6 y2 m | 1.5 m | abnormal eye movement | 7 m, 0.5 h∼2 d, 2∼3 per m | − | + | + | − | + | + |
| A00603 | M | c.2312C>T | T771I | − | − | 14 y3 m | 10 m | hemiplegia | 10 m, 0.1 h∼5 d, 2 per m | + | + | + | − | + | NA |
| A03603 | M | c.2316C>G | S772R | − | − | 6 y1 m | 4 m | dystonia | 10 m, 3∼4 d, 2∼10 per m | + | + | + | − | + | − |
| A01103 | F | c.2401G>A | D801N | − | − | 5 y6 m | 5 m | abnormal eye movement | 5 m, 4∼5 d, 2∼4 per m | + | + | + | − | + | − |
| A02003 | F | c.2401G>A | D801N | − | − | 3 y6 m | 1 m | abnormal eye movement | 4 m, 2∼3 d, 2 per m | + | + | + | − | + | + |
| A02403 | M | c.2401G>A | D801N | − | − | 2 y9 m | 2 m | hemiplegia | 2 m, 2∼3 d, 2 per m | + | + | + | − | + | − |
| A02203 | M | c.2401G>A | D801N | − | − | 8 y | 4 m | hemiplegia | 4 m, 2∼4 d, 1∼4 per m | + | + | − | − | + | − |
| A02503 | F | c.2401G>A | D801N | − | − | 6 y | 7 m | hemiplegia | 7 m, 3∼5 d, 2 per m | − | + | − | − | + | − |
| A03103 | M | c.2401G>A | D801N | − | − | 1 y9 m | 4 m | quadriplegia | 4 m, 3 d, 1∼3 per m | + | + | + | − | + | + |
| A04203 | F | c.2401G>A | D801N | − | − | 3 y7 m | 10 m | hemiplegia | 10 m, 3∼5 d, 3∼10 per m | + | + | + | − | + | − |
| A03503 | M | c.2401G>A | D801N | − | − | 1 y6 m | 2.5 m | dystonia | 6 m, 1∼2 h, 1∼3 per m | + | + | + | − | + | + |
| A02803 | M | c.2401G>A | D801N | − | − | 2 y5 m | 2 m | dystonia | 2.3 m, 3∼5 d, 1∼2 per m | + | + | + | − | + | + |
| A03703 | M | c.2401G>A | D801N | − | − | 9 m | 2.5 m | abnormal eye movement | 5.3 m, 6 h∼2 d, 1∼2 per m | + | + | + | − | + | + |
| A03903 | M | c.2401G>A | D801N | − | − | 11 y11 m | 3 m | hemiplegia | 3 m, 3∼4 d, 8∼10 per m | + | + | + | − | + | + |
| A04603 | F | c.2401G>A | D801N | − | − | 1 y3 m | 3.5 m | abnormal eye movement | 6 m, 2∼3 d, 3∼4 per m | + | + | + | − | + | + |
| A04803 | M | c.2401G>A | D801N | − | − | 1 y5 m | 3 m | abnormal eye movement | 6 m, 2∼3 d, 2∼3 per m | + | + | + | − | + | − |
| A06103 | M | c.2401G>A | D801N | − | − | 4 y9 m | 1 m | abnormal eye movement | 1 m, 4∼7 d, 3∼4 per m | + | + | + | − | + | − |
| A05603 | M | c.2405T>C | L802P | − | − | 7 y | 14 m | abnormal eye movement | 14 m, 1 h∼7 d, 3∼4 per m | + | + | − | − | + | + |
| A05604 | M | c.2405T>C | L802P | − | − | 7 y | 8 m | abnormal eye movement | 14 m, 3∼4 d, 3∼4 per m | + | + | − | − | + | + |
| A06203 | F | c.2413G>C | D805H | − | − | 4 y3 m | 2 m | abnormal eye movement | 8 m, 2∼3 d, 3∼10 per m | − | + | + | − | + | + |
| A00303 | M | c.2417T>A | M806K | − | NA | 7 y6 m | 3 m | abnormal eye movement | 10 m, 1∼7 d, 1 per m | − | + | + | − | + | + |
| A05403 | M | c.2423C>T | P808L | − | − | 1 y9 m | 4 m | abnormal eye movement | 7 m, 2 h∼7 d, 3∼4 per m | + | + | + | − | + | − |
| A00403 | M | c.2429T>A | I810N | − | − | 12 y1 m | 1.5 m | abnormal eye movement | 6 m, 1∼3 d, 1∼10 per m | + | + | + | + | + | + |
| A00703 | M | c.2443G>A | E815K | − | − | 6 y6 m | 6 m | hemiplegia | 6 m, 1∼4 d, 1∼4 per m | − | + | + | + | + | + |
| A00503 | F | c.2443G>A | E815K | − | − | 10 y9 m | 6 h | abnormal eye movement | 7 m, 3∼5 d, 1∼4 per m | − | + | + | + | + | NA |
| A01303 | M | c.2443G>A | E815K | NA | − | 4 y7 m | 1 m | dystonia | 4 m,2 d, 3∼4 per m | − | + | + | − | + | − |
| A01503 | F | c.2443G>A | E815K | − | − | 3 y10 m | 4 m | seizure | 4 m, 0.5 h∼1 d, 3∼4 per m | + | + | + | + | + | + |
| A03303 | M | c.2443G>A | E815K | − | − | 1 y10 m | 1 m | dystonia | 17 m, 2∼3 d, 1 per m | − | + | + | + | + | + |
| A04003 | M | c.2443G>A | E815K | − | − | 2 y | 1 m | abnormal eye movement | 4.5 m, 2∼5 d, 1∼2 per m | − | + | + | − | + | + |
| A02303 | M | c.2443G>A | E815K | − | − | 4 y3 m | 1 m | abnormal eye movement | 4 m, 2∼3 d, 4 per m | − | + | + | + | + | + |
| A06003 | F | c.2443G>A | E815K | − | − | 4 y3 m | 9 m | seizure | 9.5 m, 1∼3 d, 3∼10 per m | + | + | + | + | + | + |
| A06303 | M | c.2443G>A | E815K | − | − | 4 y11 m | 2 m | dystonia | 7 m, 3∼7 d, 2∼6 per m | + | + | + | + | + | + |
| A05903 | F | c.2516T>C | L839P | − | − | 1 y5 m | 8 m | abnormal eye movement | 8 m, 0.5 h∼7 d, 1∼2 per m | + | + | + | − | + | + |
| A02703 | F | c.2767G>T | D923Y | − | − | 4 y11 m | 2 m | abnormal eye movement | 18 m, 1∼4 d, 1∼2 per m | − | + | + | − | + | NA |
| A00103 | M | c.2839G>A | G947R | − | − | 20 y10 m | 2 d | abnormal eye movement | 36 m, 8∼9 d, 3∼4 per m | + | + | + | − | + | + |
| A00203 | F | c.2839G>A | G947R | − | − | 10 y6 m | 4 m | abnormal eye movement | 7 m, 0.5 h∼5 d, 2∼3 per m | − | + | + | − | + | − |
| A01603 | M | c.2839G>A | G947R | − | − | 6 y | 12 m | hemiplegia | 12 m,7 d, 4 per m | − | + | + | − | + | + |
| A03003 | F | c.2839G>A | G947R | − | − | 2 y5 m | 1.5 m | abnormal eye movement | 4.5 m, 1∼5 d, 4 per m | + | + | + | − | + | + |
| A05303 | F | c.2839G>A | G947R | − | − | 8 y8 m | 4.5 m | abnormal eye movement | 5 m, 0.5 h∼3 d, 3∼4 per m | + | + | + | − | + | + |
| A02903 | F | c.2839G>C | G947R | − | + | 1 y6 m | 5 m | dystonia | 12 m, 1∼2 d, 2∼3 per m | + | + | + | − | + | + |
| A05503 | M | c.2839G>C | G947R | − | − | 4 y11 m | 7 m | abnormal eye movement | 7 m, 0.5 h∼3 d, 2∼3 per m | + | + | + | − | + | − |
| A05803 | M | − | − | − | − | 3 y6 m | 7 m | dystonia | 7 m, 1∼5 h, 0∼1 per m | − | + | + | − | − | Untreated |
| A04503 | F | − | − | − | − | 4 y6 m | 3.5 m | abnormal eye movement | 23 m, 0.5∼1 h, 2∼30 per m | + | + | − | − | − | + |
| A01203 | M | c.2839G>C | G947R | − | − | 17 y6 m | 30 m | abnormal eye movement | 30 m, 0.5 h∼4 d, 4∼7 per m | + | + | + | − | + | − |
| A01403 | M | c.2309T>G | L770R | − | + | 9 y5 m | 42 m | hemiplegia | 43 m, 0.1∼0.5 h, 0∼7 per d | + | − | − | − | + | Untreated |
| A04103 | M | c.2767G>A | D923N | − | − | 3 y6 m | 30 m | quadriplegia | 30 m, 3 h∼7 d, 4∼7 per m | + | + | + | − | + | + |
| A05203 | F | c.2677G>A | G893R | − | − | 7 y3 m | 24 m | hemiplegia | 24 m, 0.2 h∼5 d, 2∼3 per m | − | + | − | − | + | − |
F: female, M: male, y: year, h: hour, d: day, m: month, +: positive, −: negative, NA: not available, Patients A05603 and A05604 were two monozygous twins.