Clinical and genetic characteristics and diagnosis of hereditary variants of neonatal epilepsy

Семенова, Н. А.; Дадали, Е. Л.; Sharkov, Artem; Акимова, И. А.

doi:10.17650/2222-8721-2017-7-3-36-42

Cited by 5 publications

(2 citation statements)

References 25 publications

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“…Отже, застосування методів генетичного обстеження дає змогу встановити етіологію більшості з описаних епілептичних енцефало патій. Генетичні причини можуть бути різними: мутації в окремих генах (моногенні епілепсії); мутації в декількох генах; хромосомні аномалії; вроджені порушення метаболізму тощо [94]. Унаслідок мутацій у генах порушується функ ція кодуючих білків, що призводить до розвит ку каналопатій, синаптичної дисфункції, транс портного дефекту, порушення транскрипції, репарації ДНК, а також до порушення обміну речовини.…”

Section: клінічне обстеженняunclassified

Modern approach to diagnosis and treatment of seizures in newborns and early age children

Martyniuk¹,

Znamenska²,

Shveikina³

et al. 2021

MPU

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The article is devoted to the topical problem of neonatology and pediatric neurology — the diagnosis and treatment of seizures in newborns and young children. The work presents an algorithm for the diagnosis and treatment of epileptic seizures in children. It is indicated that the therapeutic effect of most antiepileptic drugs consists of modulation of voltage-gated and ligand-gated channels of membranes of neurons of the cerebral cortex, enhancement of inhibitory synaptic transmission or inhibition of activating synaptic transmission. The issues of the pharmacokinetics and pharmacodynamics of antiepileptic drugs are considered, taking into account the age characteristics of the child's body, in particular, newborns and early age children. The problems of drug interaction were discussed. The properties of individual antiepileptic drugs, which are used in newborns and young children, are considered. Emphasized are «polar» differences in the work of phenobarbital, which depend on the stage of epileptogenesis, namely: suppression of epileptiform activity at the early stage of epileptogenesis and its enhancement in the already formed epileptic focus (epileptic system). The literature data on the differentiated treatment of certain epileptic syndromes are presented. The issues on the prospects for the treatment of genetically determined diseases, which are accompanied by seizures associated with metabolic disorders, are considered. The modern high-tech methods of treatment of these diseases are noted. The role of diet therapy, co-factor therapy in the treatment of hereditary metabolic disorders, in particular, the ketogenic diet as a method of alternative treatment for drug-resistant epilepsy in children, is shown. No conflict of interest was declared by the authors. Key words: newborn, epilepsy, epileptic encephalopathy, treatment, antiepileptic drugs, review.

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Section: клінічне обстеженняunclassified

Modern approach to diagnosis and treatment of seizures in newborns and early age children

Martyniuk¹,

Znamenska²,

Shveikina³

et al. 2021

MPU

View full text Add to dashboard Cite

show abstract

“…3 From a practical point of view, on-time diagnosis can limit the diagnostic search, the duration of which often provokes parental anxiety and unnecessary financial expenditures, it is necessary for calculating the risk of giving birth to a sick child in a burdened family and planning of preventive measures, improves the prognosis accuracy and can lead to targeted therapy. 4,5,6 The interpretation of the results is believed to be carried out in collaboration with geneticists, only if the treating neurologist doesn't have the sufficient experience and understanding of genetics.3 Russian practice shows that the management of these patients, including the selection and interpretation of genetic testing, often falls on the shoulders of neurologists-epileptologists. Therefore, it is important for the practitioner to evaluate progress in this area and prepare for the use of genetic testing in clinical practice .9 The aim of the study was to describe the spectrum of detectable gene mutations in patients with epilepsy or epileptic encephalopathy in everyday clinical practice, including analysis of diagnosed epileptic syndromes, characteristics of seizures, timing of the genetic diagnosis, treatment options and efficacy.…”

Section: Introductionmentioning

confidence: 99%

Identification and Analysis of Genetic Epilepsy and Epileptic Encephalopathies in the Outpatient Practice of Epilepsy Specialists

Rakhmanina

Volkov²,

Shestakova

et al. 2020

MNJ

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Background: Given the significant share of gene mutations in the etiology of epilepsy, it is important for the practitioners to evaluate progress in this area. Objective: To describe the spectrum of being detected gene mutations in patients with epilepsy or epileptic encephalopathy in clinical practice of neurologists specializing in epilepsy with an analysis of diagnosed epileptic syndromes, the characteristics of seizures, the timing of a genetic diagnosis, options and treatment efficacy. Methods: The study included 100 patients (40 boys, 60 girls) with epilepsy/epileptic encephalopathy and a gene mutation identified. The average age was 6.9±5.1 years. Through remote access, epilepsy specialists filled out a specially designed unified table containing information from outpatient case history. Results: In the outpatient practice of epilepsy specialists, there are patients with a wide range of gene mutations, the leading of which is a mutation in the SCN1A gene (15%). Nowadays, the main method (85%) of detection remains the next generation sequencing in the "Hereditary Epilepsy" panel. Years pass from the onset of the disease to the genetic diagnosis (Me-3 years). In most cases, patients with severe (52% have epileptic encephalopathy, 88% have developmental disorders) and pharmacoresistant (mean amount of anti-epileptic drugs-3,8±2,2, multitherapy-70%) syndromes have undergone genetic testing. In the treatment of these patients epileptologists are increasingly (52%) use alternative methods: steroids, ketogenic diet and others. The absence of seizures was observed only in 46% of patients. Conclusion: Thus, in the outpatient practice of epileptologists of Russia, patients with a wide range of gene mutations are found. As a rule, these are patients with severe, therapy-resistant epileptic syndromes.

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On the study of seizures in newborns and early age children (features of diagnosis and clinical and genetic characteristics of epileptic encephalopathies)

Martyniuk¹,

Znamenska²,

Shveikina³

et al. 2021

MPU

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The article is devoted to the urgent problem of neonatology and pediatric neurology — seizures in newborns and young children. In the work, a short review of the clinical and genetic characteristics of monogenic epilepsy is presented, in particular, the main attention is paid to the variants that begin in neonatal and early childhood. It has been shown that a significant number of epileptic encephalopathies are caused by mutations in genes whose protein products form voltage-dependent (sodium and potassium), ligan(dependent (γ-aminobutyric acid — GABA) channels, the functioning of which ensures the passage of a nerve impulse in neurons of the cerebral cortex. The necessity of including the molecular genetic methods into the algorithm for examining a child with epilepsy, in particular with epileptic encephalopathy, is emphasized. It is noted that congenital metabolic disorders are one of the etiological reasons for the development of epileptic seizures in children, in particular in newborns and young children. It was shown that congenital metabolic disorders have phenotypic manifestations of epileptic encephalopathy. Some curable metabolic defects that are accompanied by seizures, their diagnosis and timely treatment are described. No conflict of interest was declared by the authors. Key words: newborn, epilepsy, epileptic encephalopathy, diagnosis, genetic examination, metabolic defects, review.

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Clinical and genetic characteristics and diagnosis of hereditary variants of neonatal epilepsy

Cited by 5 publications

References 25 publications

Modern approach to diagnosis and treatment of seizures in newborns and early age children

Modern approach to diagnosis and treatment of seizures in newborns and early age children

Identification and Analysis of Genetic Epilepsy and Epileptic Encephalopathies in the Outpatient Practice of Epilepsy Specialists

On the study of seizures in newborns and early age children (features of diagnosis and clinical and genetic characteristics of epileptic encephalopathies)

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