Pyridoxine dependent epilepsy: Seizure onset, seizure types and EEG features

Machado, Amrita; Vural, Serap; Mercimek-Mahmutoglu, Saadet

doi:10.3233/pep-14095

Cited by 2 publications

(1 citation statement)

References 62 publications

(170 reference statements)

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“…Дефицит антиквитина, помимо указанных DOI: 10.19163/2307-9266-2022-10-6- [48]. Клинические исследования терапии высокими дозами витамина В 6 в сочетании с диетой, ограничивающей потребление лизина, показали снижение нейротоксических эффектов вследствие накопления субстратов пиридоксинзависимых ферментов, вызывающих задержку развития и когнитивные нарушения, по сравнению с применением монотерапии [51]. В настоящее время стандартом является тройная терапия, включающая в себя высокие дозы витамина В 6 (15-30 мг/кг/сут, в 3 приема), ограничение потребления лизина и поддержку аргинином (150 мг/кг/сут, в 3 приема) [52].…”

Section: клинические проявления дефицита витамина вunclassified

Molecular Mechanisms Underlying Therapeutic Action of Vitamin B6

Zagubnaya

Nartsissov

2023

Farm. farmakol. (Pâtigorsk)

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The aim of the study was to analyze the molecular mechanisms that determine the possibility of using vitamin B6 in clinical practice for the correction of various pathological conditions.Materials and methods. Information retrieval (Scopus, PubMed) and library (eLibrary) databases were used as research tools. In some cases, the ResearchGate application was used for a semantic search. The analysis and generalization of the scientific literature on the topic of research, covering the period from 1989 to the present, has been carried out in the work.Results. It has been shown that all chemical forms of vitamin B6 are able to penetrate the membranes of most cells by free diffusion, while forming phosphorylated forms inside. Pyridoxal phosphate is a biologically important metabolite that is directly involved as a cofactor in a variety of intracellular reactions. Requirements for this cofactor depend on the age, sex and condition of the patient. Pregnancy and lactation play a special role in the consumption of vitamin B6. In most cases, a balanced diet will provide an acceptable level of this vitamin. At the same time, its deficiency leads to the development of a number of pathological conditions, including neurodegenerative diseases, inflammations and diabetes. Negative manifestations from the central nervous system are also possible with an excessive consumption of B6.Conclusion. Replenishment of the vitamin B6 level in case of its identified deficiency is a necessary condition for the successful treatment of the central nervous system diseases, diabetes and correction of patients’ immune status. At the same time, it is necessary to observe a balanced intake of this cofactor in order to avoid negative effects on metabolism in case of its excess.

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Section: клинические проявления дефицита витамина вunclassified

Molecular Mechanisms Underlying Therapeutic Action of Vitamin B6

Zagubnaya

Nartsissov

2023

Farm. farmakol. (Pâtigorsk)

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Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes

Patel

Mercimek-Mahmutoglu

2016

Indian J Pediatr

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Epilepsy is one of the most common neurological disorders in childhood. Epilepsy associated with global developmental delay and cognitive dysfunction is defined as epileptic encephalopathy. Certain inherited metabolic disorders presenting with epileptic encephalopathy can be treated with disease specific diet, vitamin, amino acid or cofactor supplementations. In those disorders, disease specific therapy is successful to achieve good seizure control and improve long-term neurodevelopmental outcome. For this reason, intractable epilepsy with global developmental delay or history of developmental regression warrants detailed metabolic investigations for the possibility of an underlying treatable inherited metabolic disorder, which should be undertaken as first line investigations. An underlying genetic etiology in epileptic encephalopathy has been supported by recent studies such as array comparative genomic hybridization, targeted next generation sequencing panels, whole exome and whole genome sequencing. These studies report a diagnostic yield up to 70%, depending on the applied genetic testing as well as number of patients enrolled. In patients with epileptic encephalopathy, a stepwise approach for diagnostic work-up will help to diagnose treatable inherited metabolic disorders quickly. Application of detailed genetic investigations such as targeted next generation sequencing as second line and whole exome sequencing as third line testing will diagnose underlying genetic disease which will help for genetic counseling as well as guide for prenatal diagnosis. Knowledge of underlying genetic cause will provide novel insights into the pathogenesis of epileptic encephalopathy and pave the ground towards the development of targeted neuroprotective treatment strategies to improve the health outcome of children with epileptic encephalopathy.

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Pyridoxine dependent epilepsy: Seizure onset, seizure types and EEG features

Cited by 2 publications

References 62 publications

Molecular Mechanisms Underlying Therapeutic Action of Vitamin B6

Molecular Mechanisms Underlying Therapeutic Action of Vitamin B6

Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes

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