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Objective
Through international collaboration, we evaluated the phenotypic aspects of a multiethnic cohort of KCNT1‐related epilepsy and explored genotype‐phenotype correlations associated with frequently encountered variants.
Methods
A cross‐sectional analysis of children harboring pathogenic or likely pathogenic KCNT1 variants was completed. Children with one of the two more common recurrent...
Seizures are a common early presentation in infants with tuberous sclerosis complex (TSC) and can be preceded by electrographic changes on electroencephalography (EEG) before clinical seizure onset. A limited number of studies have addressed the initial EEG findings in TSC and the outcome of early treatment with antiepileptic medication prior to clinical seizure onset.We describe two infants with...
The relationship between epilepsy and sleep is bidirectional as seizures disrupt sleep and coexisting sleep disorders have detrimental effects on seizure control and quality of life for both the children and their families. Previous research has reported on sleep disturbance in children with epilepsy primarily by subjective parental reports. Actigraphy may provide a more accurate objective evaluation...
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