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• W3194459685 abstract "<h2>Abstract</h2><h3>Objective</h3> 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. <h3>Methods</h3> 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. <h3>Results</h3> 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. <h3>Conclusion</h3> 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." @default.
• W3194459685 created "2021-08-30" @default.
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• W3194459685 date "2021-11-01" @default.
• W3194459685 modified "2023-10-02" @default.
• W3194459685 title "Genetic-cellular epilepsy: Clues to diagnosing newborns with neonatal seizures" @default.
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• W3194459685 doi "https://doi.org/10.1016/j.seizure.2021.08.013" @default.
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