Epilepsy and EEG Phenotype of SLC13A5 Citrate Transporter Disorder
| العنوان: | Epilepsy and EEG Phenotype of SLC13A5 Citrate Transporter Disorder |
|---|---|
| المؤلفون: | Emily M. Spelbrink, Qian-Zhou Yang, Emily R Hsu, Brenda E. Porter, Kimberly L. Nye |
| المصدر: | Child Neurology Open, Vol 7 (2020) Child Neurology Open |
| بيانات النشر: | SAGE Publishing, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | 0301 basic medicine, Pediatrics, medicine.medical_specialty, neonatal seizures, developmental disability, inborn errors of metabolism, Status epilepticus, Electroencephalography, lcsh:RC346-429, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, medicine, lcsh:Neurology. Diseases of the nervous system, seizures, status epilepticus, Valproic Acid, medicine.diagnostic_test, business.industry, Epileptic encephalopathy, lcsh:RJ1-570, lcsh:Pediatrics, General Medicine, Semiology, medicine.disease, Phenotype, epileptic encephalopathy, 030104 developmental biology, Original Article, Phenobarbital, medicine.symptom, business, antiseizure drugs, 030217 neurology & neurosurgery, medicine.drug |
| الوصف: | Mutations in the SLC13A5 gene, a sodium citrate cotransporter, cause a rare autosomal recessive epilepsy (EIEE25) that begins during the neonatal period and is associated with motor and cognitive impairment. Patient’s seizure burden, semiology, and electroencephalography (EEG) findings have not been well characterized. Data on 23 patients, 3 months to 29 years of age are reported. Seizures began during the neonatal period in 22 patients. Although seizures are quite severe in many patients later in life, seizure freedom was attainable in a minority of patients. Multiple patients’ chronic seizure management included a few common medications, phenobarbital and valproic acid in particular. Patients EEGs had a relatively well-preserved background for age, even in the face of frequent seizures, little slowing and multiple normal EEGs and do not support an epileptic encephalopathy. Other causes for the motor and cognitive delay beyond epilepsy warrant further study. |
| اللغة: | English |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d7591c0c86a8d7efca8d3d87b6cfdabTest https://doaj.org/article/d1268072e5c74cd187e0e9f6336edff4Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....0d7591c0c86a8d7efca8d3d87b6cfdab |
| قاعدة البيانات: | OpenAIRE |
| الوصف غير متاح. |