Neonatal Seizures: An Overview of Genetic Causes and Treatment Options
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 Epileps...
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MDPI AG
2021-09-01
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| Online Access: | https://www.mdpi.com/2076-3425/11/10/1295 |
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| author | Giulia Spoto Maria Concetta Saia Greta Amore Eloisa Gitto Giuseppe Loddo Greta Mainieri Antonio Gennaro Nicotera Gabriella Di Rosa |
| author_facet | Giulia Spoto Maria Concetta Saia Greta Amore Eloisa Gitto Giuseppe Loddo Greta Mainieri Antonio Gennaro Nicotera Gabriella Di Rosa |
| author_sort | Giulia Spoto |
| collection | DOAJ |
| description | 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 <i>KCNQ2</i>, <i>KCNQ3</i>, <i>ARX</i>, <i>STXBP1</i>, <i>SLC25A22</i>, <i>CDKL5</i>, <i>KCNT1</i>, <i>SCN2A</i> and <i>SCN8A</i>. 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. |
| first_indexed | 2024-03-10T06:41:16Z |
| format | Article |
| id | doaj.art-3eb4070d93684fcfa2ab75bffa395dfc |
| institution | Directory Open Access Journal |
| issn | 2076-3425 |
| language | English |
| last_indexed | 2024-03-10T06:41:16Z |
| publishDate | 2021-09-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Brain Sciences |
| spelling | doaj.art-3eb4070d93684fcfa2ab75bffa395dfc2023-11-22T17:36:57ZengMDPI AGBrain Sciences2076-34252021-09-011110129510.3390/brainsci11101295Neonatal Seizures: An Overview of Genetic Causes and Treatment OptionsGiulia Spoto0Maria Concetta Saia1Greta Amore2Eloisa Gitto3Giuseppe Loddo4Greta Mainieri5Antonio Gennaro Nicotera6Gabriella Di Rosa7Unit of Child Neurology and Psychiatry, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi”, University of Messina, 98125 Messina, ItalyUnit of Child Neurology and Psychiatry, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi”, University of Messina, 98125 Messina, ItalyUnit of Child Neurology and Psychiatry, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi”, University of Messina, 98125 Messina, ItalyUnit of Neonatal Intensive Care, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi”, University of Messina, 98125 Messina, ItalyAzienda USL di Bologna, 40124 Bologna, ItalyDepartment of Biomedical and NeuroMotor Sciences, University of Bologna, 40138 Bologna, ItalyUnit of Child Neurology and Psychiatry, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi”, University of Messina, 98125 Messina, ItalyUnit of Child Neurology and Psychiatry, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi”, University of Messina, 98125 Messina, ItalySeizures 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 <i>KCNQ2</i>, <i>KCNQ3</i>, <i>ARX</i>, <i>STXBP1</i>, <i>SLC25A22</i>, <i>CDKL5</i>, <i>KCNT1</i>, <i>SCN2A</i> and <i>SCN8A</i>. 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.https://www.mdpi.com/2076-3425/11/10/1295benign familial neonatal epilepsyearly myoclonic encephalopathyearly-infantile epileptic encephalopathyepilepsygenotype-phenotype correlationneonatal epilepsy |
| spellingShingle | Giulia Spoto Maria Concetta Saia Greta Amore Eloisa Gitto Giuseppe Loddo Greta Mainieri Antonio Gennaro Nicotera Gabriella Di Rosa Neonatal Seizures: An Overview of Genetic Causes and Treatment Options Brain Sciences benign familial neonatal epilepsy early myoclonic encephalopathy early-infantile epileptic encephalopathy epilepsy genotype-phenotype correlation neonatal epilepsy |
| title | Neonatal Seizures: An Overview of Genetic Causes and Treatment Options |
| title_full | Neonatal Seizures: An Overview of Genetic Causes and Treatment Options |
| title_fullStr | Neonatal Seizures: An Overview of Genetic Causes and Treatment Options |
| title_full_unstemmed | Neonatal Seizures: An Overview of Genetic Causes and Treatment Options |
| title_short | Neonatal Seizures: An Overview of Genetic Causes and Treatment Options |
| title_sort | neonatal seizures an overview of genetic causes and treatment options |
| topic | benign familial neonatal epilepsy early myoclonic encephalopathy early-infantile epileptic encephalopathy epilepsy genotype-phenotype correlation neonatal epilepsy |
| url | https://www.mdpi.com/2076-3425/11/10/1295 |
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