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Table 2 Summary of clinical data of collected patients

From: GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders

Age distribution of pts

gender: F/M

Age at symptoms onset

Age at GLUT1DS diagnosis

Symptoms at onset

ketogenic diet

 < 8 years 12 pts (17.9%)

40 females (59.7%)

1st year: 40 patients (60%)

Infancy: 34 pts (51%)

paroxysmal symptoms (63 pts): 56% seizure + paroxysmal ocular movement disorder (20%)

53 patients (79%): KD

8–17 years: 28 pts (41.8%)

27 males (40.3%)

1–5 year: 22 patients (33%)

8–14 years: 16 pts (24%)

mixed paroxysmal and fixed symptoms (35 pts): psychomotor delay (70%)

4 patients (6%): Triheptanoin

 > 18 years: 27 pts (40.3%)

 

 > 5 yrs five patients (7%)

15–17 years in 2 pts (3%)

 

10 patients (15%) not treated

   

Adulthood: 15 pts (22%)

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