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Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review
Background: Vitamin B6-dependent epilepsies include treatable diseases responding to pyridoxine or pyridoxal-5Iphosphate (ALDH7A1 deficiency, PNPO deficiency, PLP binding protein deficiency, hyperprolinemia type II and hypophosphatasia and glycosylphosphatidylinositol anchor synthesis defects). Pati...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10047402/ https://www.ncbi.nlm.nih.gov/pubmed/36980111 http://dx.doi.org/10.3390/children10030553 |
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author | Mastrangelo, Mario Gasparri, Valentina Bernardi, Katerina Foglietta, Silvia Ramantani, Georgia Pisani, Francesco |
author_facet | Mastrangelo, Mario Gasparri, Valentina Bernardi, Katerina Foglietta, Silvia Ramantani, Georgia Pisani, Francesco |
author_sort | Mastrangelo, Mario |
collection | PubMed |
description | Background: Vitamin B6-dependent epilepsies include treatable diseases responding to pyridoxine or pyridoxal-5Iphosphate (ALDH7A1 deficiency, PNPO deficiency, PLP binding protein deficiency, hyperprolinemia type II and hypophosphatasia and glycosylphosphatidylinositol anchor synthesis defects). Patients and methods: We conducted a systematic review of published pediatric cases with a confirmed molecular genetic diagnosis of vitamin B6-dependent epilepsy according to PRISMA guidelines. Data on demographic features, seizure semiology, EEG patterns, neuroimaging, treatment, and developmental outcomes were collected. Results: 497 published patients fulfilled the inclusion criteria. Seizure onset manifested at 59.8 ± 291.6 days (67.8% of cases in the first month of life). Clonic, tonic-clonic, and myoclonic seizures accounted for two-thirds of the cases, while epileptic spasms were observed in 7.6%. Burst-suppression/suppression-burst represented the most frequently reported specific EEG pattern (14.4%), mainly in PLPB, ALDH7A1, and PNPO deficiency. Pyridoxine was administered to 312 patients (18.5% intravenously, 76.9% orally, 4.6% not specified), and 180 also received antiseizure medications. Pyridoxine dosage ranged between 1 and 55 mg/kg/die. Complete seizure freedom was achieved in 160 patients, while a significant seizure reduction occurred in 38. PLP, lysine-restricted diet, and arginine supplementation were used in a small proportion of patients with variable efficacy. Global developmental delay was established in 30.5% of a few patients in whom neurocognitive tests were performed. Conclusions: Despite the wide variability, the most frequent hallmarks of the epilepsy phenotype in patients with vitamin B6-dependent seizures include generalized or focal motor seizure semiology and a burst suppression/suppression burst pattern in EEG. |
format | Online Article Text |
id | pubmed-10047402 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-100474022023-03-29 Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review Mastrangelo, Mario Gasparri, Valentina Bernardi, Katerina Foglietta, Silvia Ramantani, Georgia Pisani, Francesco Children (Basel) Systematic Review Background: Vitamin B6-dependent epilepsies include treatable diseases responding to pyridoxine or pyridoxal-5Iphosphate (ALDH7A1 deficiency, PNPO deficiency, PLP binding protein deficiency, hyperprolinemia type II and hypophosphatasia and glycosylphosphatidylinositol anchor synthesis defects). Patients and methods: We conducted a systematic review of published pediatric cases with a confirmed molecular genetic diagnosis of vitamin B6-dependent epilepsy according to PRISMA guidelines. Data on demographic features, seizure semiology, EEG patterns, neuroimaging, treatment, and developmental outcomes were collected. Results: 497 published patients fulfilled the inclusion criteria. Seizure onset manifested at 59.8 ± 291.6 days (67.8% of cases in the first month of life). Clonic, tonic-clonic, and myoclonic seizures accounted for two-thirds of the cases, while epileptic spasms were observed in 7.6%. Burst-suppression/suppression-burst represented the most frequently reported specific EEG pattern (14.4%), mainly in PLPB, ALDH7A1, and PNPO deficiency. Pyridoxine was administered to 312 patients (18.5% intravenously, 76.9% orally, 4.6% not specified), and 180 also received antiseizure medications. Pyridoxine dosage ranged between 1 and 55 mg/kg/die. Complete seizure freedom was achieved in 160 patients, while a significant seizure reduction occurred in 38. PLP, lysine-restricted diet, and arginine supplementation were used in a small proportion of patients with variable efficacy. Global developmental delay was established in 30.5% of a few patients in whom neurocognitive tests were performed. Conclusions: Despite the wide variability, the most frequent hallmarks of the epilepsy phenotype in patients with vitamin B6-dependent seizures include generalized or focal motor seizure semiology and a burst suppression/suppression burst pattern in EEG. MDPI 2023-03-15 /pmc/articles/PMC10047402/ /pubmed/36980111 http://dx.doi.org/10.3390/children10030553 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Systematic Review Mastrangelo, Mario Gasparri, Valentina Bernardi, Katerina Foglietta, Silvia Ramantani, Georgia Pisani, Francesco Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review |
title | Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review |
title_full | Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review |
title_fullStr | Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review |
title_full_unstemmed | Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review |
title_short | Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review |
title_sort | epilepsy phenotypes of vitamin b6-dependent diseases: an updated systematic review |
topic | Systematic Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10047402/ https://www.ncbi.nlm.nih.gov/pubmed/36980111 http://dx.doi.org/10.3390/children10030553 |
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