Table 3 Summary of epileptic features found in patients with MDS reported in the literature and proportion of seizure types in individuals with seizures from prominent case series investigating epilepsy; NR = not reported
From: A brief history of MECP2 duplication syndrome: 20-years of clinical understanding
Feature | Males n/N | Females n/N | Total n/N (%) | References |
|---|---|---|---|---|
Epilepsy/seizures | – | – | 326/619 (53%) | [1,2,3,4, 7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23, 25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42, 44,45,46,47,48, 51,52,53,54,55, 57,58,59,60,61, 63, 64, 66,67,68,69,70,71, 73,74,75,76,77,78,79,80, 82,83,84,85,86, 113] |
Treatment-refractory seizures | – | – | 100/148 (68%) | [1, 10, 12, 18,19,20, 28, 33, 37, 40, 41, 43, 44, 51,52,53, 57, 60, 61, 70, 73, 74, 76, 77, 79, 80] |
Seizure type | Miguet et al. [77] | Marafi et al. [79]* | Cutri-French et al. [113]* |
|---|---|---|---|
n/N (%) | n/N (%) | n/N (%) | |
Generalised | Â | Â | Â |
Tonic–clonic | 19/35 (54%) | 15/22 (68%) | 11/22 (50%) |
Tonic | NR | 14/22 (63%) | NR |
Myoclonic | 8/35 (23%) | 14/22 (63%) | 4/22 (18%) |
Absence | 5/35 (14%) | NR | 5/22 (23%) |
Atypical | NR | 14/22 (63%) | NR |
Atonic | 12/35 (34%) | 18/22 (82%) | 7/22 (32%) |
Focal | Â | Â | Â |
Focal | NR | 8/22 (36%) | 1/22 (5%) |
Complex | 6/35 (17%) | NR | 6/22 (27%) |