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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...

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Autores principales: Dilena, Robertino, Mauri, Eleonora, Di Fonzo, Alessio, Bana, Cristina, Ajmone, Paola Francesca, Rigamonti, Claudia, Catenio, Tamara, Gangi, Silvana, Striano, Pasquale, Fumagalli, Monica
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
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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.
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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
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