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Русский журнал детской неврологии
Scopus
ISSN 2073-8803 · ABV-press · 342 articles in the index
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Journal Article
Early infantile epileptic encephalopathy in the structure of microcephaly-capillary malformation syndrome: a clinical case
The article presents a clinical case of early infantile epileptic encephalopathy diagnosed in a child with a confirmed genetic study of microcephaly-capillary malformation syndrome. The extremely rare occurrence of this syndrome, as well as the small amount of information devoted to the problem of…
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Journal Article
Metabolic aspects of epilepsy: prospects for metabolome research
Epilepsy is one of the most common neurological diseases. Despite the availability of modern antiepileptic drugs, up to 30 % of patients fail to achieve control over seizures and develop pharmacoresistancy, which leads to decrease in quality of life, social and professional limitations as well as…
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Journal Article
Substantiation of additional diagnostic methods for mental and cognitive disorders in the structure of childhood absence epilepsy
Background. Childhood absence epilepsy (CAE) is a common form of epilepsy in preschool and primary school children, characterized by absences and pathognomonic electroencephalographic signs. The question regarding the characterization of intelligence remains relevant today – as available data are…
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Journal Article
Dynamics of management of monogenic epilepsies, developmental and epileptic encephalopathies in routine clinical practice
Background. There is no doubt that genetic testing should be one of the main studies in modern clinical diagnosis of epileptic syndromes.Aim. To describe and compare the spectrum of detected gene mutations in patients with epilepsy and developmental and epileptic encephalopathies (DEE) over the…
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Journal Article
Moya-moya disease in a child with nephropatic cystinosis: a case report and literature review
The article presents a case report of a child with a combination of two ultra rare diseases: nephropathic cystinosis and moya-moya disease.Cystinosis is an autosomal recessive lysosomal storage disorder characterized by accumulation of cystine in lysosomes throughout the body. Cystinosis is caused…
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Journal Article
The legacy of Professor K.Yu. Mukhin. “Epilepsy. Atlas of Electroclinical Diagnostics and Therapy” in 2 volumes (2023–2024)
13 января 2025 г. безвременно ушел из жизни Константин Юрьевич Мухин – доктор медицинских наук, профессор, руководитель Объединения медицинских учреждений по диагностике, лечению и реабилитации заболеваний нервной системы и эпилепсии им. Святителя Луки, международно признанный эксперт в диагностике…
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Journal Article
Definition and new approaches to understanding the pathogenesis of Drave syndrome in children
Nowadays, Dravet syndrome is one of the most studied forms of genetic epilepsy. Despite a large number of studies and publications, Dravet syndrome remains a difficult neurological disease to treat. The relationship of epileptogenesis in Dravet syndrome with the activity of sodium channels has been…
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Journal Article
Pharmacoresistant course of idiopathic generalized epilepsy or concomitant pathology: a clinical case
The development of pharmacoresistance in epilepsy in pediatric patients is one of the most pressing problems. For relatively benign forms such as idiopathic generalized epilepsy, drug resistance is not typical. If it occurs in such patients, there is a need for an additional diagnostic search, in…
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Journal Article
Cerebral palsy: current status of the problem (review of literature)
The article presents an overview of current literature data on the description of risk factors, epidemiology, etiology, clinical presentation, diagnosis, prevention and treatment of cerebral palsy (CP).Cerebral palsy is the most common pathology that leads to disability in childhood, with impaired…
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Journal Article
Selective serotonin reuptake inhibitors in pediatric neurology: a safety issue (systematic review)
The authors searched, analyzed and systematized the results of domestic and foreign studies of selective serotonin reuptake inhibitors-induced QT prolongation and the risk of Torsade de pointes (full-text versions of original articles, clinical cases, systemic reviews, meta-analyses, Cochrane…
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Journal Article
In memory of Konstantin Yuryevich Mukhin
13 января 2025 г. в 2 ч 20 мин преждевременно ушел из жизни наш дорогой друг и коллега, профессор Константин Юрьевич Мухин.
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Journal Article
Intellectual development disorder syndrome with congenital anomalies of type 99, faceted female (OMIM: 300968), updated mutation in the USP9X gene
The syndrome of mental retardation with congenital anomalies of type 99, limited to the female sex (OMIM: 300968) is an X-linked dominant disorder of the development of the central nervous system, characterized by delayed psychomotor development and mild or moderate mental retardation.In the…
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Journal Article
The case of development and epileptic encephalopathy with spike-wave activation in sleep in a boy with Smith–Magenis syndrome
A brief literature review of the rare genetic Smith–Magenis syndrome, which is manifested by mental retardation, dyssomnia, and specific behavioral disorders, is presented. Epilepsy occurs in approximately 50 % of patients. A description of long-term follow-up of a patient with this syndrome and…
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Journal Article
Pharmacotherapy of plexiform neurofibromas in patients with neurofibromatosis type 1. Possible adverse events and their management
Neurofibromatosis type 1 is a multisystem genetic disorder associated with an increased risk of benign and malignant tumors due to mutations in the NF1 gene. Clinical manifestations of the disease vary and depend on the patient’s age. One of the most common complications of neurofibromatosis type 1…
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Journal Article
Epilepsy and congenital cerebral palsy: Parallels between the location of genome anomalies and clinical manifestations
Progress in molecular genetics is gradually leading to a radical revision of the understanding of the nature of not only recognized genetically determined diseases, but also those whose genetic nature has only been assumed. More and more information is emerging about polygenic and/or multifactorial…
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Journal Article
Efficacy and tolerability of rufinamide in the treatment of Lennox–Gastaut syndrome (experience of the Svt. Luka’s Association of Medical Institutions)
Background. Lennox–Gastaut syndrome (LGS) is a classic developmental and epileptic encephalopathy with a debut in childhood, characterized by resistance to therapy, a severe course, and an unfavorable prognosis. Due to the existing difficulties in treatment of LGS, hopes are pinned on development…
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Journal Article
Local intracerebral form of diffuse leptomeningeal glioneuronal tumor – a new entity of the group of epileptogenic neoplasms?
Diffuse leptomeningeal glioneuronal tumor was introduced into the World Health Organization classification of central nervous system tumors in 2016. According to the actual World Health Organization classification of central nervous system tumors emerged in 2021, its reliable verification requires…
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Journal Article
First experience of botulinum toxin type A therapy in Russia in comprehensive therapy for Wilson–Konovalov disease diagnosed at the age of 12 years
The main forms of orphan Wilson–Konovalov disease – cerebral, abdominal and mixed forms, with copper accumulation in the central nervous system, patients debut spastic and dystonic attacks. The authors demonstrate the clinical example of the efficiency and safety of botulinum toxin type A for the…