Genetic-cellular epilepsy: Clues to diagnosing newborns with neonatal seizures

The aim of this study was to analyse clinical characteristics of newborns with genetic-cellular epilepsy (GCE) to compare them to those of newborns with seizures with other aetiologies and elucidate clues to the diagnosis of GCE.

This retrospective single-centre study analysed data from an 8-year cohort of newborns with seizures from 2010-2017. Clinical, neurophysiological, laboratory, and imaging data and outcomes of children with GCE were compared to those of newborns with seizures with other aetiologies.

A total of 112 newborns (N = 68; 61% boys) were included. Hypoxic-ischaemic encephalopathy (N = 42; 29%) was the most common seizure aetiology; GCE (with pathogenic variants KCNQ2, KCNQ3, SCN2A, TBC1D24, CHD2, and STXBP) was diagnosed in 9 (6%). The group of newborns with GCE significantly differed from the group with seizures with other aetiologies in terms of family history of epilepsy (p = 0.000), neonatal epileptic status (NES) (p = 0.007), normal imaging studies (p = 0.000), and outcomes (p = 0.034), but did not differ regarding the type and age of seizure onset, number of antiepileptic drugs administered, and EEG results. Positive family history of epilepsy (p = 0.027), presence of NES (p = 0.041), and normal imaging studies (p = 0.002) were most indicative of the diagnosis of GCE. Probability of GCE with this combination was 0.92.

In a heterogenous group of newborns with seizures, a positive family history of epilepsy, presence of NES, and normal imaging studies were most indicative of the diagnosis of GCE.