Table 2.

The general information of the fifteen PDE patients.

Patient	Seizure onset age	Age at test	Pyridoxine dose	ALDH7A1 mutations (NM_001182.4)	Development
					Language	Motor
1	3 months	4y3 months	180 mg bid (18.0 mg/kg/d)	c.1061A >G; Deletion of exon 8–13	Moderate	Normal
2	3.5 months	8y7 months	100 mg bid (7.0 mg/kg/d)	c.1553G > C; c.1061A > G	Normal	Normal
3	23 days	3y4 months	30 mg tid (5.0 mg/kg/d)	c.1279G > C; c.1279G > C	Mild	Normal
4	6 months	4y5 months	60 mg tid (8.9 mg/kg/d)	c.1547A > G; c.212C > T	Normal	Normal
5	2 days	3 years	50 mg tid (9.1 mg/kg/d)	c.1008+1G > A; c.796C > T	Mild	Normal
6	1 days	5y6 months	60 mg tid (8.1 mg/kg/d)	IVS17-1_7delCCACTAG+c.1566_1567delTA; c.871+5G > A	Moderate	Normal
7	1y1 months	5y4 months	60 mg tid (8.2 mg/kg/d)	c.1279G > C; c.986G > A	Mild	Normal
8	8 days	6y1 months	60 mg tid (7.7 mg/kg/d)	c.965 C > T; c.952 G > C	Normal	Normal
9	2 months	5y8 months	60 mg tid (7.9 mg/kg/d)	c.410G > A; c.1008+1G > A	Normal	Mild
10	1 days	4y5 months	50 mg tid (7.5 mg/kg/d)	c.1415+1G > T; c.871+5G > A	Mild	Normal
11	1 days	3y10 months	40 mg tid (6.8 mg/kg/d)	c.1531G > A; c.1008+1G > A	Severe	Normal
12	5 months	5y3 months	80 mg tid (10.9 mg/kg/d)	c.1061A > G; c.1008+1G > A	Mild	Normal
13	1 months	4y9 months	30 mg tid (4.3 mg/kg/d)	c.1547A > G; c.1061A > G	Mild	Mild
14	1.5 months	1y4 months	60 mg tid (12.9 mg/kg/d)	c.1547A > G; c.1547A > G	Normal	Normal
15	8 days	2y6 months	15 mg bid (1.8 mg/kg/d)	c.1547A > G; c.1072C > T	Mild	Normal