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

•In a group of 112 newborns with seizures genetic-cellular epilepsy was diagnosed in 9 (6%).•In the group with genetic-cellular epilepsy pathologic variants KCNQ2, KCNQ3, SCN2A, TBC1D24, CHD2, STXBP were identified.•The group of newborns with genetic-cellular epilepsy did not significantly differ from the group of newborns with seizures of other etiology regarding type and age of onset of seizures, results of EEG and number of antiepileptic drugs used.•Neurodevelopmental outcome at the age of 1-8 years was favorable in 52% of children with seizures of other etiologies and only in one child with genetic-cellular epilepsy.•Positive family history for epilepsy, presence of neonatal epileptic status and normal imaging studies were found to be most indicative of the diagnosis of genetic-cellular epilepsy. 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.