A5021630778- Epilepsy research and treatment
- Genetics and Neurodevelopmental Disorders
- Porphyrin Metabolism and Disorders
- Amino Acid Enzymes and Metabolism
- Metabolism and Genetic Disorders
- Hereditary Neurological Disorders
- Neuroscience and Neuropharmacology Research
- Genomics and Rare Diseases
- Genetic Neurodegenerative Diseases
- Autoimmune Neurological Disorders and Treatments
- Adenosine and Purinergic Signaling
- Epigenetics and DNA Methylation
- Digestive system and related health
- Pharmacological Effects and Toxicity Studies
- Mitochondrial Function and Pathology
- Genetic Syndromes and Imprinting
- Neurological diseases and metabolism
National Cancer Center of Georgia
2024
Abstract CHD2‐related epilepsy is characterized by early‐onset photosensitive myoclonic with developmental delay and a high rate of pharmacoresistance. We sought to evaluate the efficacy acetazolamide (ACZ) in epilepsy, due ACZ's unexpected our first patient harboring pathogenic CHD2 variant. collected patients from different Eastern European countries drug‐resistant who were then treated ACZ. Patients underwent video EEG before during ACZ treatment. In zebrafish model ictal‐like events...
The FRMD5-associated neurodevelopmental disorder is characterized by early-onset abnormal eye movements, seizures, ataxia, nonepileptic myoclonus, and developmental delay with only symptomatic treatment available. Opsoclonus-myoclonus-ataxia syndrome has similar features well-established immunomodulatory treatment. We present a case of patient de novo FRMD5 variant responsive to steroid pulse therapy provide phenotypic-genotypic correlation based on our reported data. Serial MRI the brain,...
To describe early diagnostic clues in Cyclin-Dependent Kinase-Like 5 (CDKL5) refractory encephalopathy, to improve treatment strategies.We retrospectively studied 35 patients (25 females, 10 males) with CDKL5 gene mutations or deletion, focusing on their seizure semiology, the electroencephalogram (EEG) pattern, effect of treatment, and developmental outcome.The first seizures were recognizable consisted tonic, then clonic, spasms phases, occurring sleep at a median age 6 weeks. Clusters...