Table 1 Summary of main clinical characteristics in 63 index patients
Neurodevelopmental traits | Number of patients (percentage) |
|---|---|
Profound intellectual disability | 16 (25.3%) |
Moderate to severe intellectual disability | 47 (74.6%) |
Ataxia | 21 (33.3%) (44% of those who could walk) |
Cerebral palsy | 31 (49.2%) |
Muscular hypotonia | 49 (77.8%) |
Microcephaly | 27 (41.9%) |
Macrocephaly | 4 (6.3%) |
Single seizure type | 6 (9.5%) |
Multiple seizure types | 57 (90.5%) |
Status epilepticus | 13 (20.6%) |
Seizure Semiology | |
Epileptic spasms | 20 (31.8%) |
Generalized/focal tonic seizures | 36 (57%) |
Generalized/focal clonic seizures | 10 (15.9%) |
Generalized tonic-clonic seizures | 33 (52.4%) |
Generalized/focal myoclonic seizures | 31 (49.2%) |
Atonic seizures | 15 (42.9%) |
Myoclonic-atonic seizures | 5 (7.9%) |
Focal seizures aware | 19 (30.2%) |
Focal seizures with impaired awareness | 17 (26.9%) |
Early-onset absences | 10 (15.9%) |
Atypical absences | 7 (11.1%) |
