KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review
Potassium Voltage-Gated Channel Subfamily Q Member 2 (KCNQ2) gene has been initially associated with “Benign familial neonatal epilepsy” (BFNE). Amounting evidence arising by next-generation sequencing techniques have led to the definition of new phenotypes, such as neonatal epileptic encephalopathy...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-03-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2022.826225/full |
| _version_ | 1818314944740851712 |
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| author | Greta Amore Ambra Butera Giulia Spoto Giulia Valentini Maria Concetta Saia Vincenzo Salpietro Vincenzo Salpietro Vincenzo Salpietro Francesco Calì Gabriella Di Rosa Antonio Gennaro Nicotera |
| author_facet | Greta Amore Ambra Butera Giulia Spoto Giulia Valentini Maria Concetta Saia Vincenzo Salpietro Vincenzo Salpietro Vincenzo Salpietro Francesco Calì Gabriella Di Rosa Antonio Gennaro Nicotera |
| author_sort | Greta Amore |
| collection | DOAJ |
| description | Potassium Voltage-Gated Channel Subfamily Q Member 2 (KCNQ2) gene has been initially associated with “Benign familial neonatal epilepsy” (BFNE). Amounting evidence arising by next-generation sequencing techniques have led to the definition of new phenotypes, such as neonatal epileptic encephalopathy (NEE), expanding the spectrum of KCNQ2-related epilepsies. Pyridoxine (PN) dependent epilepsies (PDE) are a heterogeneous group of autosomal recessive disorders associated with neonatal-onset seizures responsive to treatment with vitamin B6 (VitB6). Few cases of neonatal seizures due to KCNQ2 pathogenic variants have been reported as successfully responding to VitB6. We reported two cases of KCNQ2-related neonatal epilepsies involving a 5-year-old male with a paternally inherited heterozygous mutation (c.1639C>T; p.Arg547Trp), and a 10-year-old female with a de novo heterozygous mutation (c.740C>T; p.Ser247Leu). Both children benefited from VitB6 treatment. Although the mechanisms explaining the efficacy of VitB6 in such patients remain unclear, this treatment option in neonatal-onset seizures is easily taken into account in Neonatal Intensive Care Units (NICUs). Further studies should be conducted to better define clinical guidelines and treatment protocols. |
| first_indexed | 2024-12-13T08:57:41Z |
| format | Article |
| id | doaj.art-7993bcb9aaca4cf1b842d8275001b43f |
| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-12-13T08:57:41Z |
| publishDate | 2022-03-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj.art-7993bcb9aaca4cf1b842d8275001b43f2022-12-21T23:53:14ZengFrontiers Media S.A.Frontiers in Neurology1664-22952022-03-011310.3389/fneur.2022.826225826225KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature ReviewGreta Amore0Ambra Butera1Giulia Spoto2Giulia Valentini3Maria Concetta Saia4Vincenzo Salpietro5Vincenzo Salpietro6Vincenzo Salpietro7Francesco Calì8Gabriella Di Rosa9Antonio Gennaro Nicotera10Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi”, Unit of Child Neurology and Psychiatry, University of Messina, Messina, ItalyDepartment of Human Pathology of the Adult and Developmental Age “Gaetano Barresi”, Unit of Child Neurology and Psychiatry, University of Messina, Messina, ItalyDepartment of Human Pathology of the Adult and Developmental Age “Gaetano Barresi”, Unit of Child Neurology and Psychiatry, University of Messina, Messina, ItalyDepartment of Human Pathology of the Adult and Developmental Age “Gaetano Barresi”, Unit of Child Neurology and Psychiatry, University of Messina, Messina, ItalyDepartment of Human Pathology of the Adult and Developmental Age “Gaetano Barresi”, Unit of Child Neurology and Psychiatry, University of Messina, Messina, ItalyDepartment of Neuromuscular Disorders, Institute of Neurology, University College London, London, United KingdomPediatric Neurology and Muscular Diseases Unit, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS) Istituto Giannina Gaslini, Genoa, ItalyDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, ItalyOasi Research Institute-Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Troina, ItalyDepartment of Human Pathology of the Adult and Developmental Age “Gaetano Barresi”, Unit of Child Neurology and Psychiatry, University of Messina, Messina, ItalyDepartment of Human Pathology of the Adult and Developmental Age “Gaetano Barresi”, Unit of Child Neurology and Psychiatry, University of Messina, Messina, ItalyPotassium Voltage-Gated Channel Subfamily Q Member 2 (KCNQ2) gene has been initially associated with “Benign familial neonatal epilepsy” (BFNE). Amounting evidence arising by next-generation sequencing techniques have led to the definition of new phenotypes, such as neonatal epileptic encephalopathy (NEE), expanding the spectrum of KCNQ2-related epilepsies. Pyridoxine (PN) dependent epilepsies (PDE) are a heterogeneous group of autosomal recessive disorders associated with neonatal-onset seizures responsive to treatment with vitamin B6 (VitB6). Few cases of neonatal seizures due to KCNQ2 pathogenic variants have been reported as successfully responding to VitB6. We reported two cases of KCNQ2-related neonatal epilepsies involving a 5-year-old male with a paternally inherited heterozygous mutation (c.1639C>T; p.Arg547Trp), and a 10-year-old female with a de novo heterozygous mutation (c.740C>T; p.Ser247Leu). Both children benefited from VitB6 treatment. Although the mechanisms explaining the efficacy of VitB6 in such patients remain unclear, this treatment option in neonatal-onset seizures is easily taken into account in Neonatal Intensive Care Units (NICUs). Further studies should be conducted to better define clinical guidelines and treatment protocols.https://www.frontiersin.org/articles/10.3389/fneur.2022.826225/fullKCNQ2neonatal epilepsyvitamin B6pyridoxinepyridoxal 5 phosphatepyridoxine-dependent epilepsy (PDE) |
| spellingShingle | Greta Amore Ambra Butera Giulia Spoto Giulia Valentini Maria Concetta Saia Vincenzo Salpietro Vincenzo Salpietro Vincenzo Salpietro Francesco Calì Gabriella Di Rosa Antonio Gennaro Nicotera KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review Frontiers in Neurology KCNQ2 neonatal epilepsy vitamin B6 pyridoxine pyridoxal 5 phosphate pyridoxine-dependent epilepsy (PDE) |
| title | KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review |
| title_full | KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review |
| title_fullStr | KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review |
| title_full_unstemmed | KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review |
| title_short | KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review |
| title_sort | kcnq2 related neonatal epilepsy treated with vitamin b6 a report of two cases and literature review |
| topic | KCNQ2 neonatal epilepsy vitamin B6 pyridoxine pyridoxal 5 phosphate pyridoxine-dependent epilepsy (PDE) |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2022.826225/full |
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