A5081089796- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Metabolism and Genetic Disorders
- Epilepsy research and treatment
- Mitochondrial Function and Pathology
- Diet and metabolism studies
- Genomic variations and chromosomal abnormalities
- Neurological Disease Mechanisms and Treatments
- Forensic and Genetic Research
- Cancer-related gene regulation
- Protein Kinase Regulation and GTPase Signaling
- Chemical Reactions and Isotopes
- RNA and protein synthesis mechanisms
- Fetal and Pediatric Neurological Disorders
- Cerebral Palsy and Movement Disorders
- Glioma Diagnosis and Treatment
- Gastroesophageal reflux and treatments
- Receptor Mechanisms and Signaling
- Digestive system and related health
- Chromosomal and Genetic Variations
Center for Children
2018-2020
Burdenko Neurosurgery Institute
2020
Nevro (United States)
2015-2018
Scientific Center of Children's Health
2016
Heterotrimeric G proteins are immediate transducers of protein-coupled receptors—the biggest receptor family in metazoans—and play innumerate functions health and disease. A set de novo point mutations GNAO1 GNAI1, the genes encoding α-subunits (Gαo Gαi1, respectively) heterotrimeric proteins, have been described to cause pediatric encephalopathies represented by epileptic seizures, movement disorders, developmental delay, intellectual disability, signs neurodegeneration. Among such...
We present the experience of using ketogenic diet (KD) in treatment pharmacoresistant epilepsy a patient with glucose transporter deficiency syndrome type I (GLUT1). observed nine-year-old boy refractory frequent multiple myoclonic seizures due to GLUT1. The high effectiveness KD GLUT1 was demonstrated. By 10th day from beginning KD, complete relief epileptic and EEG abnormalities achieved. After 3 months, we noticed positive signs cognitive speech development child. Antiepileptic drugs were...
Treatment of drug-resistant epilepsy is an extremely difficult task. Unfortunately, in Russia there are no regulations containing the algorithm actions to help practical neurologist management patients. It obvious that urgent need establish a network specialized centers level 4 (classification National Association Epilepsy Centers, USA) territory Russian Federation, united by common ideology and methodology. Objective: increase quality care for patients with refractory forms epilepsy,...
The article presents a clinical case of severe infantile generalized idiopathic epilepsy with status-like seizures, muscular dystonia and developmental delay. examination included phenotypic analysis: the course perinatal period, nature cognitive behavioral disorders; video electroencephalography, brain MRI. Using targeted exome sequencing genes associated epileptic encephalopathy (NGS), we detected nucleotide heterozygous variant ALDH7A1 gene (previously not described). This mutation led to...
Introduction . Epilepsy is a neurological disorder characterized by periodic seizure attacks. Around 70–80% of epilepsy cases have hereditary component. Aim : to identify the genetic factors pharmacoresistant in children. Materials and methods Fifty two patients with psychomotor / speech retardation were examined. We used next generation sequencing (NGS) technique, which targeted exome sequencing, “Hereditary epilepsy” panel genes, whole assay. Results Mutations detected 30 (57.7%) patients,...
Objective. We describe our experience of using the ketogenic diet (KD) for treatment drug-resistant epilepsy. Refractory epilepsy causing irreparable damage to health patients giving an epileptic encephalopathy with regression cognitive and motor functions especially in childhood. Materials methods. observed 95 patients, children from 1 year 14 years old refractory frequent seizures. Results. For 20% KD or without anticonvulsant therapy resulted treating prevention all types The improvement...
SCN2A mutations are traditionally described in benign infantile seizures. We describing rather rare case of epileptic encephalopathy associated with incertion ctg/ctGg SCN2A. The female child was born at term by normal delivery after non-complicated pregnancy. Seizures started when she 3 months old as focal tonic, later on myoclonic seizures developed. They were refractory to all used antiepileptic drugs including valproic acid, topiramate, lamotrigine, ethosuximide and tetracoside. At age...
We present the clinical case of patient with epilepsy, developmental retardation and hearing loss. The whole exome sequencing allowed to reveal compound heterozygous variants nucleotide sequence in SPATA5 gene (c.1714+1G>A, c.1678G>A). Mutations have been described patients loss mental syndrome (MIM 616577). Paired parents were carriers one variant. Such mutations lead development epileptic disorders 3% cases, should be considered not only as a possible cause neurodegenerative...
Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome is a rare consequence of focal status epilepticus (SE) in childhood. The major discerning feature the unilateral brain lesion during SE with subsequent development hemiparesis and drug-resistant epilepsy. damage not fully understood. We hypothesized that comorbidity could be cause this hemisphere damage; to end, we searched for evidence patients HHE. Objective : analyze concomitant pathology HHE, which was possible damage. Materials methods ....
The article presents the clinical cases of 6 patients with epilepsy, psychomotor and speech developmental delay. heterozygous variants nucleotide sequence in SPTAN1 gene were detected by whole exome sequencing. Mutations have been described epileptic encephalopathy 5 (ОMIM: 613477). history, electroencephalographic magnetic resonance imaging data our are similar children previously. It was shown that located closer to C-terminal region associated a more severe phenotype, whereas near...
Autism spectrum disorders (ASDs) are a group of complex disintegrative mental development, characterized by lack ability to social interaction, communication, stereotyped behavior, leading maladaptation. We present rare clinical case delay in psychomotor and speech specific facial dysmorphia, impaired detected mutation the ADNP gene. When conducting targeted exomic sequencing, we revealed previously undescribed variant nucleotide sequence gene (p.Ala1017fs). Mutations heterozygous state were...
Surgery is the first-line treatment option in children with FCD and refractory epilepsy, but rate of success patient numbers who became free seizures vary widely from series to series.To elicit variables affecting outcome predicting achievement long-term seizure-free status.One hundred sixty-nine cortical dysplasia DR-epilepsy underwent surgery Preoperative evaluation included prolonged video-EEG MRI (in all patients) neuropsychological testing when possible. Fourteen patients invasive EEG,...