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Adjuvant Treatment for Protocadherin 19 (PCDH19) Syndrome

Protocadherin 19 (PCDH19) syndrome is inherited as an X-linked pattern and affects mainly females. This syndrome is caused by a mutation in the PCDH19 gene encoding for the protocadherin protein. It is characterized by refractory seizures during febrile episodes with neuropsychiatric manifestations....

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Autores principales: Moncayo, Juan A, Vargas, Maite N, Castillo, Isabel, Granda, Pablo V, Duque, Andrea M, Argudo, Jennifer M, Matcheswalla, Sakina, Lopez Dominguez, Guillermo E, Monteros, Gustavo, Andrade, Andres F, Ojeda, Diego, Yepez, Mario
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9392850/
https://www.ncbi.nlm.nih.gov/pubmed/36004035
http://dx.doi.org/10.7759/cureus.27154
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author Moncayo, Juan A
Vargas, Maite N
Castillo, Isabel
Granda, Pablo V
Duque, Andrea M
Argudo, Jennifer M
Matcheswalla, Sakina
Lopez Dominguez, Guillermo E
Monteros, Gustavo
Andrade, Andres F
Ojeda, Diego
Yepez, Mario
author_facet Moncayo, Juan A
Vargas, Maite N
Castillo, Isabel
Granda, Pablo V
Duque, Andrea M
Argudo, Jennifer M
Matcheswalla, Sakina
Lopez Dominguez, Guillermo E
Monteros, Gustavo
Andrade, Andres F
Ojeda, Diego
Yepez, Mario
author_sort Moncayo, Juan A
collection PubMed
description Protocadherin 19 (PCDH19) syndrome is inherited as an X-linked pattern and affects mainly females. This syndrome is caused by a mutation in the PCDH19 gene encoding for the protocadherin protein. It is characterized by refractory seizures during febrile episodes with neuropsychiatric manifestations. There is no consensus on the treatment of PCDH19. We conducted a literature review to investigate the main drugs used for this syndrome, and to evaluate the best possible course of adjuvant treatment for these patients. We used an advanced PubMed search strategy with the following inclusion criteria: a) full-text papers, b) English Language, and c) studies conducted in humans. Exclusion criteria: a) literature reviews, b) systematic reviews, and c) metanalysis. We gathered 26 observational papers to conduct this literature review on clobazam and bromide which have been shown to reduce seizures by 50%. Corticosteroids improved neurological symptoms during the episodes in a few patients. Nevertheless, they recurred after a few months. Preliminary results of ganaxolone, which is still under study, demonstrated a reduction of 60% in seizure episodes. A ketogenic diet has been studied to treat several refractory epilepsies, including PCDH19; it has promising results as effective adjuvant therapy in the resolution of status epilepticus, suggesting it could be used as part of the treatment in early childhood. Stiripentol was given as adjuvant therapy in a patient with PCDH19 epilepsy resulting in the most extended period of seizure-free episodes, but more studies must be performed to assess its efficacy.
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spelling pubmed-93928502022-08-23 Adjuvant Treatment for Protocadherin 19 (PCDH19) Syndrome Moncayo, Juan A Vargas, Maite N Castillo, Isabel Granda, Pablo V Duque, Andrea M Argudo, Jennifer M Matcheswalla, Sakina Lopez Dominguez, Guillermo E Monteros, Gustavo Andrade, Andres F Ojeda, Diego Yepez, Mario Cureus Internal Medicine Protocadherin 19 (PCDH19) syndrome is inherited as an X-linked pattern and affects mainly females. This syndrome is caused by a mutation in the PCDH19 gene encoding for the protocadherin protein. It is characterized by refractory seizures during febrile episodes with neuropsychiatric manifestations. There is no consensus on the treatment of PCDH19. We conducted a literature review to investigate the main drugs used for this syndrome, and to evaluate the best possible course of adjuvant treatment for these patients. We used an advanced PubMed search strategy with the following inclusion criteria: a) full-text papers, b) English Language, and c) studies conducted in humans. Exclusion criteria: a) literature reviews, b) systematic reviews, and c) metanalysis. We gathered 26 observational papers to conduct this literature review on clobazam and bromide which have been shown to reduce seizures by 50%. Corticosteroids improved neurological symptoms during the episodes in a few patients. Nevertheless, they recurred after a few months. Preliminary results of ganaxolone, which is still under study, demonstrated a reduction of 60% in seizure episodes. A ketogenic diet has been studied to treat several refractory epilepsies, including PCDH19; it has promising results as effective adjuvant therapy in the resolution of status epilepticus, suggesting it could be used as part of the treatment in early childhood. Stiripentol was given as adjuvant therapy in a patient with PCDH19 epilepsy resulting in the most extended period of seizure-free episodes, but more studies must be performed to assess its efficacy. Cureus 2022-07-22 /pmc/articles/PMC9392850/ /pubmed/36004035 http://dx.doi.org/10.7759/cureus.27154 Text en Copyright © 2022, Moncayo et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Internal Medicine
Moncayo, Juan A
Vargas, Maite N
Castillo, Isabel
Granda, Pablo V
Duque, Andrea M
Argudo, Jennifer M
Matcheswalla, Sakina
Lopez Dominguez, Guillermo E
Monteros, Gustavo
Andrade, Andres F
Ojeda, Diego
Yepez, Mario
Adjuvant Treatment for Protocadherin 19 (PCDH19) Syndrome
title Adjuvant Treatment for Protocadherin 19 (PCDH19) Syndrome
title_full Adjuvant Treatment for Protocadherin 19 (PCDH19) Syndrome
title_fullStr Adjuvant Treatment for Protocadherin 19 (PCDH19) Syndrome
title_full_unstemmed Adjuvant Treatment for Protocadherin 19 (PCDH19) Syndrome
title_short Adjuvant Treatment for Protocadherin 19 (PCDH19) Syndrome
title_sort adjuvant treatment for protocadherin 19 (pcdh19) syndrome
topic Internal Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9392850/
https://www.ncbi.nlm.nih.gov/pubmed/36004035
http://dx.doi.org/10.7759/cureus.27154
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