Clinical profile of the patients with tuberous sclerosis
| Sex/age (years) | AED/dose (mg/kg/d) | Age at seizure onset (months) | Seizure type/age at last seizure (years) | Present seizure frequency | Behavioural and neurological findings | Tubers on MRI | Last seizure before blood sample | |
|---|---|---|---|---|---|---|---|---|
| AED, antiepileptic drug; CB carbamazepine; Cer, cerebellar lobe; d, day; F, female; Fro, frontal lobe; h, hour; L, left; M, male; MH, mental handicap; Occ, occipital lobe; Par, parietal lobe; Pas, parasagittal lobe; R, right, Tem, temporal lobe; VA, valproic acid. | ||||||||
| 1 | F/10 | 0 | 5 | Complex partial/2 | Free | Mild MH | Fro (1L/1R) | |
| 2 | M/10 | 0 | 10 | Complex partial/1 | Free | None | Par (1L/1R), Tem (1L), Occ (1L) | |
| 3 | F/4 | 0 | 9 | Febrile/1.5 | Free | Sleep problems | Cer (1) | |
| 4 | M/13 | 0 | 34 | Febrile/4 | Free | None | Fro (1L), Par (1L) | |
| 5 | F/35 | 0 | 18 | Atypical absences/2 | Free | None | Not available | |
| 6 | M/5 | 0 | 3 | Complex partial, 18 months atypical absences/2.5 | Free | Severe MH, autism | Fro (4R, 4L), Par (2R, 2L), Tem (3R, 2L), Occ (1R, 1L), Pas (3L) | |
| 7 | F/7 | CB/20, VA/20 | 3 | Complex partial | Daily | Severe MH, autism | Fro (1R, 1L), Par (1R, 1L) | 1 h |
| 8 | M/4 | CB/20, VA/20 | 9 | Complex partial | Daily | Slight MH, autism | Fro (2R, 2L), Par (1R, 1L) | 1 h |
| 9 | M/14 | CB/20, VA 30 | 22 | Atypical absences, complex partial | Daily | None | Occ (1R), Pas (2L) | 3 h |
| 10 | F/2 | CB/20, VA/20 | 6 | Infantile spasms, 18 months also complex partial | Daily | Mild motor and mental handicap | Fro (2R, 1L), Pas (1R) | 2.5 h |
| 11 | M/9 | CB/20, VA/20 | 11 | Simple partial | Weekly | Slight L hemiplegia | Fro (3L), Par (2R, 1L), Occ (1L), Cer (1) | 26 h |
| 12 | M/7 | CB/20, VA/20 | 28 | Atypical absences up to 6 years, then complex partial | Weekly | None | Fro (2L), Par (1R, 1L), Occ (1R) | 3 d |
| 13 | F/8 | CB/20, VA/30 | 3 | Complex partial | Weekly | Mild MH, autism | Fro (1L), Par (1R) | 1 d |
| 14 | M/9 | CB/20, VA/30 | 28 | Atypical absences, complex partial | Weekly | None | Occ (1L) | 7 d |
| 15 | M/6 | CB/20, VA/40 | 5 | Infantile spasms, 18 months also complex partial | Monthly | Mild MH | Fro (3R, 5L), Par (1R), Tem (2L), Occ (1R, 4L), Pas (3R) | 18 d |
| 16 | F/29 | CB/10, VA/20 | 18 | Atypical absences, partial seizures with secondary generalisation | Monthly | None | Not available | 20 d |
| 17 | F/9 | CB/20, VA/20 | 24 | Complex partial | Monthly | None | Tem (1L), Par (2R) | 19 d |
| 18 | M/20 | CB/20, VA/20 | 3 | Infantile spasms up to 2 years, then atypical absences, simple partial | Monthly | Mild MH, autism | Tem (1R), Par (1R) | 25 d |