Abstract
Seizures are the most frequent neurological clinical symptoms of the central nervous system (CNS) during the neonatal period. Neonatal seizures may be ascribed to an acute event or symptomatic conditions determined by genetic, metabolic or structural causes, outlining the so-called ‘Neonatal Epilepsies’. To date, three main groups of neonatal epilepsies are recognised during the neonatal period: benign familial neonatal epilepsy (BFNE), early myoclonic encephalopathy (EME) and ‘Ohtahara syndrome’ (OS). Recent advances showed the role of several genes in the pathogenesis of these conditions, such as KCNQ2, KCNQ3, ARX, STXBP1, SLC25A22, CDKL5, KCNT1, SCN2A and SCN8A. Herein, we reviewed the current knowledge regarding the pathogenic variants most frequently associated with neonatal seizures, which should be considered when approaching newborns affected by these disorders. In addition, we considered the new possible therapeutic strategies reported in these conditions.
Highlights
Seizures represent the most frequent neurological event during the neonatal period, reflecting a central nervous system (CNS) dysfunction
Disease-causing variants of SCN8A have been recently related to rare cases of benign familial neonatal epilepsy (BFNE), increasing the number of genes associated with a wide range of epilepsy phenotypes [49,50]
EEG is necessary to consider the differential diagnosis with movement disorders, often associated with some genetic epilepsies, such as those caused by STXBP1, KCNQ2, SLC25A22 and ARX variants [2]
Summary
Seizures represent the most frequent neurological event during the neonatal period, reflecting a central nervous system (CNS) dysfunction. According to a more traditional, syndromic categorisation, the ILAE identified the most common forms of neonatal epilepsies, namely the ‘Benign familial neonatal epilepsy’ (BFNE), the ‘Early myoclonic encephalopathy’ (EME) and the ‘Ohtahara syndrome’ (OS) [2,9] Nowadays, these conditions are mostly considered genetic disorders, even when a metabolic or structural cause is revealed, strongly supporting the importance of the application of the ILAE classification. Different pathogenic variants within the same gene may result in opposite effects (LoF or GoF) on the gene product, on the clinical phenotype, requiring diverse treatment options [11]. To identify the different clinical pictures and specific genetic causes, discriminating between Lof and GoF variants, may be crucial to guide appropriate therapeutic and prognostic decisions [1,8,14]
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