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.

Neonatal Seizures: An Overview of Genetic Causes and Treatment Options / Spoto, Giulia; Saia, Maria Concetta; Amore, Greta; Gitto, Eloisa; Loddo, Giuseppe; Mainieri, Greta; Nicotera, Antonio Gennaro; Di Rosa, Gabriella. - In: BRAIN SCIENCES. - ISSN 2076-3425. - ELETTRONICO. - 11:10(2021), pp. 1295.1-1295.13. [10.3390/brainsci11101295]

Neonatal Seizures: An Overview of Genetic Causes and Treatment Options

Loddo, Giuseppe;Mainieri, Greta;
2021

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.
2021
Neonatal Seizures: An Overview of Genetic Causes and Treatment Options / Spoto, Giulia; Saia, Maria Concetta; Amore, Greta; Gitto, Eloisa; Loddo, Giuseppe; Mainieri, Greta; Nicotera, Antonio Gennaro; Di Rosa, Gabriella. - In: BRAIN SCIENCES. - ISSN 2076-3425. - ELETTRONICO. - 11:10(2021), pp. 1295.1-1295.13. [10.3390/brainsci11101295]
Spoto, Giulia; Saia, Maria Concetta; Amore, Greta; Gitto, Eloisa; Loddo, Giuseppe; Mainieri, Greta; Nicotera, Antonio Gennaro; Di Rosa, Gabriella
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/955972
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