Table 1.
Clinical description of the cases, and genetic mutations of ALDH7A1 gene.
| Case (number) | Age at last neurological assessment (years) | Age at onset of epilepsy | Age of pyridoxine introduction | Seizures types | Motor development/Language development | Genetics |
|---|---|---|---|---|---|---|
| 1 | 15 | 8th day | 7 weeks old | Focal and myoclonic jerks | 2/2 | c.750G>A c.818A>T |
| 2 | 12 | 3rd day | 1 month old and 3 years | Hemicorporal right or left, generalized | 2/2 | c.787+5G>A c.1463A>G |
| 3 | 3 | 11th day | 11th day | Focal and myoclonic seizure | 1/1 | p.Glu427Gln ; 2nd mutation not found |
| 4 | 10 | 1st day | 1st day | Spasms | 1/1 | c. 1195 G>C homozygous |
| 5 | 3,5 | 1st day | 1st day | Focal and generalized | 2/2 | c. 1195G>C (p.Glu399Gln) homozygous |
| 6 | 1,5 | 3 months old | Not administered | Focal: eyes and limbs movements | c.1459_1471dup ; c.1382G>A | |
| 7 | 3 | 2nd day | 2nd day | Focal: eyes and limbs movements | 2/ | c.1459_1471dup ; c.1382G>A |
| 8 | 29 | 1st day | Generalized | 1/1 | c.491C>T ; c.1429G>C | |
| 9 | 6 | 4 months old | 5 months old | Focal, hemicorporal right, generalized, spasms | 3/3 | c.612-1G>T ; c.690-1095_71delinsG |
| 10 | 5 | 1st day | 3rd day | Spasms and myoclonic jerks | 2/2 | c.690-1095_716delinsG : r.690_787del ; c.863delC : p.(Pro288HisfsX32) |
| 11 | 5 | 1st day | 3 months old | hemicorporal right, left, generalized, spasms | 1/2 | c.1251delinsAAA : p.Phe417LeufsX8 homozygote |
| 12 | 1 | 3 months | 3 months | Generalized and focal | 2/ | c.1364T>C (p.leu455pro) homozygous |
| 13 | 8 | 7th day | 7th day | generalized | 2/3 | c.163-1G>C homozygous |
| 14 | 1 | 3 months old | 5 months old | Hemicorporal right or left | 2/ | c.1279 G>C (p.glu427Gln) homozygous |
| 15 | 9 | 11th day | 15th day | Generalized | 2/3 | c.818A>T : p .Asn273Ile c.1429G>C : p.Gly477Arg |
| 16 | 12 | 1st day | 12th day | Myoclonic jerks of face and limbs | 2/2 | c.811G>A (p.Gly271Arg) homozygous |
| 17 | 5 | 1st day | 1st day | Generalized | 1/2 | m c.1328_1331+9delinsGTTGGG homozygous |
| 18 | 6 | 1st day | 2 months old | Hemicorporal, generalized and erratic myoclonic jerk | 1/1 | c.505C>T: p.Pro169Ser ; deletion of exon 6 |
| 19 | 12 | 1st day | 5th day | Hemicorporal, generalized | 1/1 | c.434-1G>C ; c.331delA : p.(Ile111SerfsX2) |
| 20 | 5 | 1st day | 1st day | Generalized | 2/ | c.434-1G>C ; c.331delA : p.(Ile111SerfsX2) |
| 21 | 5 | 11 months old | 12 month old | Focal, generalized, atonic | 2/3 | c.612-502G>C ; r.612-541_506 |
| 22 | 3 | 12 months old | 2 month old | No seizure | 1/ | c.612-502G>C ; r.612-541_506 |
| 23 | 28 | 1st day | 4th day | Unknown | 2/2 | c 750G>A ; c748-787 del |
| 24 | 0 | 1st day | Not administered | Generalized | c.1195G>C homozygous | |
| 25 | 0 | 3rd day | Not administered | Myoclonic jerks | c.1195G>C homozygous | |
| 26 | 1 | 1st day | 7th day | Generalized | 1/1 | 2 mutations |
| 27 | 1.5 | 22nd day | 23rd day | Generalized and tonic | 1/ | c.612-502G>C ; c.690-1095_716delinsG |
| 28 | 0.3 | 1st day | 2nd day | Focal, tonic, myoclonic jerks and spasms | 1/ | c312+1G>A ; c. 1279G>C |
Motor development and language development. 1: normal, 2: moderate impairment, 3: severe impairment.