Cargando…
Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate?
Background: Neonatal convulsions are clinical manifestations in a heterogeneous group of disorders with different etiology and outcome. They are attributed to several genetic causes. Methods: We describe a patient with intractable neonatal seizures who died from respiratory compromise during a statu...
Autores principales: | , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4271583/ https://www.ncbi.nlm.nih.gov/pubmed/25566516 http://dx.doi.org/10.3389/fped.2014.00136 |
_version_ | 1782349632860323840 |
---|---|
author | Dalen Meurs-van der Schoor, Charlotte van Weissenbruch, Mirjam van Kempen, Marjan Bugiani, Marianna Aronica, Eleonora Ronner, Hanneke Vermeulen, R. Jeroen |
author_facet | Dalen Meurs-van der Schoor, Charlotte van Weissenbruch, Mirjam van Kempen, Marjan Bugiani, Marianna Aronica, Eleonora Ronner, Hanneke Vermeulen, R. Jeroen |
author_sort | Dalen Meurs-van der Schoor, Charlotte |
collection | PubMed |
description | Background: Neonatal convulsions are clinical manifestations in a heterogeneous group of disorders with different etiology and outcome. They are attributed to several genetic causes. Methods: We describe a patient with intractable neonatal seizures who died from respiratory compromise during a status epilepticus. Results: This case report provides electroencephalogram (EEG), MRI, genetic analysis, and neuropathological data. Genetic analysis revealed a de novo heterozygous missense mutation in the KCNQ2 gene, which encodes a subunit of a voltage-gated potassium channel. KCNQ2 gene mutation is associated with intractable neonatal seizures. EEG, MRI, data as well as mutation analysis have been described in other KCNQ2 cases. Post-mortem neuropathological investigation revealed mild malformation of cortical development with increased heterotopic neurons in the deep white matter compared to an age-matched control subject. The new finding of this study is the combination of a KCNQ2 mutation and the cortical abnormalities. Conclusion: KCNQ2 mutations should be considered in neonates with refractory epilepsy of unknown cause. The mild cortical malformation is an important new finding, though it remains unknown whether these cortical abnormalities are due to the KCNQ2 mutation or are secondary to the refractory seizures. |
format | Online Article Text |
id | pubmed-4271583 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-42715832015-01-06 Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate? Dalen Meurs-van der Schoor, Charlotte van Weissenbruch, Mirjam van Kempen, Marjan Bugiani, Marianna Aronica, Eleonora Ronner, Hanneke Vermeulen, R. Jeroen Front Pediatr Pediatrics Background: Neonatal convulsions are clinical manifestations in a heterogeneous group of disorders with different etiology and outcome. They are attributed to several genetic causes. Methods: We describe a patient with intractable neonatal seizures who died from respiratory compromise during a status epilepticus. Results: This case report provides electroencephalogram (EEG), MRI, genetic analysis, and neuropathological data. Genetic analysis revealed a de novo heterozygous missense mutation in the KCNQ2 gene, which encodes a subunit of a voltage-gated potassium channel. KCNQ2 gene mutation is associated with intractable neonatal seizures. EEG, MRI, data as well as mutation analysis have been described in other KCNQ2 cases. Post-mortem neuropathological investigation revealed mild malformation of cortical development with increased heterotopic neurons in the deep white matter compared to an age-matched control subject. The new finding of this study is the combination of a KCNQ2 mutation and the cortical abnormalities. Conclusion: KCNQ2 mutations should be considered in neonates with refractory epilepsy of unknown cause. The mild cortical malformation is an important new finding, though it remains unknown whether these cortical abnormalities are due to the KCNQ2 mutation or are secondary to the refractory seizures. Frontiers Media S.A. 2014-12-19 /pmc/articles/PMC4271583/ /pubmed/25566516 http://dx.doi.org/10.3389/fped.2014.00136 Text en Copyright © 2014 Dalen Meurs-van der Schoor, van Weissenbruch, van Kempen, Bugiani, Aronica, Ronner and Vermeulen. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Pediatrics Dalen Meurs-van der Schoor, Charlotte van Weissenbruch, Mirjam van Kempen, Marjan Bugiani, Marianna Aronica, Eleonora Ronner, Hanneke Vermeulen, R. Jeroen Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate? |
title | Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate? |
title_full | Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate? |
title_fullStr | Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate? |
title_full_unstemmed | Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate? |
title_short | Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate? |
title_sort | severe neonatal epileptic encephalopathy and kcnq2 mutation: neuropathological substrate? |
topic | Pediatrics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4271583/ https://www.ncbi.nlm.nih.gov/pubmed/25566516 http://dx.doi.org/10.3389/fped.2014.00136 |
work_keys_str_mv | AT dalenmeursvanderschoorcharlotte severeneonatalepilepticencephalopathyandkcnq2mutationneuropathologicalsubstrate AT vanweissenbruchmirjam severeneonatalepilepticencephalopathyandkcnq2mutationneuropathologicalsubstrate AT vankempenmarjan severeneonatalepilepticencephalopathyandkcnq2mutationneuropathologicalsubstrate AT bugianimarianna severeneonatalepilepticencephalopathyandkcnq2mutationneuropathologicalsubstrate AT aronicaeleonora severeneonatalepilepticencephalopathyandkcnq2mutationneuropathologicalsubstrate AT ronnerhanneke severeneonatalepilepticencephalopathyandkcnq2mutationneuropathologicalsubstrate AT vermeulenrjeroen severeneonatalepilepticencephalopathyandkcnq2mutationneuropathologicalsubstrate |