Cargando…
Case Report: Effect of Targeted Therapy With Carbamazepine in KCNQ2 Neonatal Epilepsy
We present a family case of neonatal-onset KCNQ2-related epilepsy due to a novel intronic mutation. Three members of an Italian family (father and offspring) presented with neonatal-onset asymmetric tonic and clonic seizures with peculiar video-electroencephalography and aEEG features referring to s...
Autores principales: | , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9329581/ https://www.ncbi.nlm.nih.gov/pubmed/35911888 http://dx.doi.org/10.3389/fneur.2022.942582 |
_version_ | 1784757947559051264 |
---|---|
author | Dilena, Robertino Mauri, Eleonora Di Fonzo, Alessio Bana, Cristina Ajmone, Paola Francesca Rigamonti, Claudia Catenio, Tamara Gangi, Silvana Striano, Pasquale Fumagalli, Monica |
author_facet | Dilena, Robertino Mauri, Eleonora Di Fonzo, Alessio Bana, Cristina Ajmone, Paola Francesca Rigamonti, Claudia Catenio, Tamara Gangi, Silvana Striano, Pasquale Fumagalli, Monica |
author_sort | Dilena, Robertino |
collection | PubMed |
description | We present a family case of neonatal-onset KCNQ2-related epilepsy due to a novel intronic mutation. Three members of an Italian family (father and offspring) presented with neonatal-onset asymmetric tonic and clonic seizures with peculiar video-electroencephalography and aEEG features referring to sequential seizures. The father and the first son underwent standard of care treatments in line with current neonatal intensive care unit protocols, with a prolonged hospitalization before reaching full seizure control with carbamazepine. After the experience acquired with her family and the latest advances in the literature, the younger daughter was directly treated with carbamazepine, obtaining rapid seizure control and short hospitalization. They all had normal development. Carbamazepine is rarely administered as a first-line option in neonatal seizures. Recent evidence suggests that neonatal intensive care unit protocols should implement a trial with sodium channel blockers such as carbamazepine as first-option anti-seizure medication and a fast access to genetic testing in neonates with sequential seizures without structural brain injury or acute causes. Moreover, we report and discuss the laboratory studies performed on a novel causative intronic mutation in KCNQ2 (c.1525+5 G>A in IVS13), since pathogenicity may be difficult to prove for intronic variants. |
format | Online Article Text |
id | pubmed-9329581 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-93295812022-07-29 Case Report: Effect of Targeted Therapy With Carbamazepine in KCNQ2 Neonatal Epilepsy Dilena, Robertino Mauri, Eleonora Di Fonzo, Alessio Bana, Cristina Ajmone, Paola Francesca Rigamonti, Claudia Catenio, Tamara Gangi, Silvana Striano, Pasquale Fumagalli, Monica Front Neurol Neurology We present a family case of neonatal-onset KCNQ2-related epilepsy due to a novel intronic mutation. Three members of an Italian family (father and offspring) presented with neonatal-onset asymmetric tonic and clonic seizures with peculiar video-electroencephalography and aEEG features referring to sequential seizures. The father and the first son underwent standard of care treatments in line with current neonatal intensive care unit protocols, with a prolonged hospitalization before reaching full seizure control with carbamazepine. After the experience acquired with her family and the latest advances in the literature, the younger daughter was directly treated with carbamazepine, obtaining rapid seizure control and short hospitalization. They all had normal development. Carbamazepine is rarely administered as a first-line option in neonatal seizures. Recent evidence suggests that neonatal intensive care unit protocols should implement a trial with sodium channel blockers such as carbamazepine as first-option anti-seizure medication and a fast access to genetic testing in neonates with sequential seizures without structural brain injury or acute causes. Moreover, we report and discuss the laboratory studies performed on a novel causative intronic mutation in KCNQ2 (c.1525+5 G>A in IVS13), since pathogenicity may be difficult to prove for intronic variants. Frontiers Media S.A. 2022-07-14 /pmc/articles/PMC9329581/ /pubmed/35911888 http://dx.doi.org/10.3389/fneur.2022.942582 Text en Copyright © 2022 Dilena, Mauri, Di Fonzo, Bana, Ajmone, Rigamonti, Catenio, Gangi, Striano and Fumagalli. https://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) and the copyright owner(s) 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 | Neurology Dilena, Robertino Mauri, Eleonora Di Fonzo, Alessio Bana, Cristina Ajmone, Paola Francesca Rigamonti, Claudia Catenio, Tamara Gangi, Silvana Striano, Pasquale Fumagalli, Monica Case Report: Effect of Targeted Therapy With Carbamazepine in KCNQ2 Neonatal Epilepsy |
title | Case Report: Effect of Targeted Therapy With Carbamazepine in KCNQ2 Neonatal Epilepsy |
title_full | Case Report: Effect of Targeted Therapy With Carbamazepine in KCNQ2 Neonatal Epilepsy |
title_fullStr | Case Report: Effect of Targeted Therapy With Carbamazepine in KCNQ2 Neonatal Epilepsy |
title_full_unstemmed | Case Report: Effect of Targeted Therapy With Carbamazepine in KCNQ2 Neonatal Epilepsy |
title_short | Case Report: Effect of Targeted Therapy With Carbamazepine in KCNQ2 Neonatal Epilepsy |
title_sort | case report: effect of targeted therapy with carbamazepine in kcnq2 neonatal epilepsy |
topic | Neurology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9329581/ https://www.ncbi.nlm.nih.gov/pubmed/35911888 http://dx.doi.org/10.3389/fneur.2022.942582 |
work_keys_str_mv | AT dilenarobertino casereporteffectoftargetedtherapywithcarbamazepineinkcnq2neonatalepilepsy AT maurieleonora casereporteffectoftargetedtherapywithcarbamazepineinkcnq2neonatalepilepsy AT difonzoalessio casereporteffectoftargetedtherapywithcarbamazepineinkcnq2neonatalepilepsy AT banacristina casereporteffectoftargetedtherapywithcarbamazepineinkcnq2neonatalepilepsy AT ajmonepaolafrancesca casereporteffectoftargetedtherapywithcarbamazepineinkcnq2neonatalepilepsy AT rigamonticlaudia casereporteffectoftargetedtherapywithcarbamazepineinkcnq2neonatalepilepsy AT cateniotamara casereporteffectoftargetedtherapywithcarbamazepineinkcnq2neonatalepilepsy AT gangisilvana casereporteffectoftargetedtherapywithcarbamazepineinkcnq2neonatalepilepsy AT strianopasquale casereporteffectoftargetedtherapywithcarbamazepineinkcnq2neonatalepilepsy AT fumagallimonica casereporteffectoftargetedtherapywithcarbamazepineinkcnq2neonatalepilepsy |