A5036011526- Genetics and Neurodevelopmental Disorders
- Epilepsy research and treatment
- Neurological diseases and metabolism
- Porphyrin Metabolism and Disorders
- Metabolism and Genetic Disorders
- Epigenetics and DNA Methylation
- Amino Acid Enzymes and Metabolism
- Adenosine and Purinergic Signaling
- Mitochondrial Function and Pathology
- Genetic Syndromes and Imprinting
- Genetic Neurodegenerative Diseases
- Pharmacological Effects and Toxicity Studies
- Autoimmune Neurological Disorders and Treatments
National Cancer Center of Georgia
2024
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,...
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...