KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP

AbstractEpilepsy of infancy with migrating focal seizures was first described in 1995. Fifteen years later,KCNT1 gene mutations were identified as the major disease-causing gene of this disease. Currently, the data on epilepsy of infancy with migrating focal seizures associated withKCNT1 mutations are heterogeneous and many questions remain unanswered including the prognosis and the long-term outcome especially regarding epilepsy, neurological and developmental status and the presence of microcephaly. The aim of this study was to assess data from patients with epilepsy in infancy with migrating focal seizures withKCNT1 mutations to refine the phenotype spectrum and the outcome. We used mind maps based on medical reports of children followed in the network of the French reference centre for rare epilepsies and we developed family surveys to assess the long-term outcome. Seventeen patients were included [age: median (25th –75th percentile): 4 (2–15) years, sex ratio: 1.4, length of follow-up: 4 (2–15) years]. Seventy-one per cent started at 6 (1–52) days with sporadic motor seizures (n = 12), increasing up to a stormy phase with long lasting migrating seizures at 57 (30 –89) days. The others entered this stormy phase directly at 1 (1–23) day. Ten patients entered a consecutive phase at 1.3 (1–2.8) years where seizures persisted at least daily (n =8), but presented different semiology: brief and hypertonic with a nocturnal (n =6) and clustered (n =6) aspects. Suppr...
Source: Brain - Category: Neurology Source Type: research