Table 3.
Group | Patient | Genotype | Born prematurely | Ethnicity | Mother given B6 | Neonatal feeding | Seizure onset | Time taken to control seizures | Response to PN | Current age | Outcome |
---|---|---|---|---|---|---|---|---|---|---|---|
(i) | 1 | R95H + E50K;Splice errorsa | + | Asian | ? | 30 min | 5 d | - | 2 y 8 m | Global delay | |
2 | D33V/D33V | - | Caucasian | B | 6 h | 8 w | - | 4 y | Normal | ||
3 | P213S/P213S | - | Caucasian | B/F* | 90 min | 3–6 d | - | 2 y 7 m | Normal | ||
4** | P213S/P213S | + | Caucasian | + | F | None | No seizures | Not tried | 4 m | Normal | |
5 | R95C/R95C | + | Turkish | F | 2 h | 7 d | Not tried | 1 y | IQ 66 at 9 m. Mild truncal hypotonia and speech delay | ||
6d | Q214fs/? | + | Caucasian | PN/F | 5 h | 15 d | - | 4 y | Normal | ||
(ii) | 7 | R116Q/R116Q | ? | Caucasian | B | 5 m | 24 h | - | 4 y | Normal/advanced | |
(iii) | 8 | R116Q/R116Q | - | Pakastani | ? | 3 h | 2.5 m | + | 7 y | Mild learning disability | |
9 | D33V/D33V | - | Caucasian | F | 3 w | 1 w | + | 2 y | Minimal delay | ||
10 | D33V/E120K | ? | Caucasian | ? | 2 m | 4 m | + | 21 y | Mild intellectual disability | ||
11 | D33V/Splice errors | + | Caucasian | F | 3 h | 6 m | + | 21 y | Severe delay/no language | ||
12 | D33V + R225C + R116Qb | - | Caucasian | F | 14 d | 3.5 m | + | 41 | IQ 93. Dyslexia and Aspergers | ||
13 | R225H/R225H | ? | ? | ? | 24 h | 6 m | + | 7 y | Spastic quadriplegia with good social contact | ||
14 | R225H;R116Q + R225H;R116Qc | - | Caucasian | ? | 30 min | 2 w | + | 2 y 7 m | Minimal delay | ||
15 | R225H;R116Q + R225H;R116Qc | + | Kosovan | ? | 10 h | 5 d | + | 8 y | DQ 65 |
(i) Neonatal onset seizures responding to pyridoxal 5’-phosphate.
(ii) Infantile spasms (onset 5 months) responsive to pyridoxal 5’-phosphate.
(iii) Seizures starting under 3 months of age responding to pyridoxine.
B = breast-fed; F = formula fed; PN = parenteral nutrition; – = no; + = yes
*Formula from 2 weeks
**Sibling of Patient 3.
ac.[148G>A] and c.[364-1G>A] were inherited in cis, this was confrimed by analysing parental DNA.
bNo parental DNA was available to ascertain which muation R116Q was in cis with.
cAssume that R116Q has been inherited in cis with R225H, no parental DNA was available to confirm this.
dSecond mutation not found.