A novel pathogenic variant of BRAT1 gene causes rigidity and multifocal seizure syndrome, lethal neonatal
| Autor: | Morteza Heidari, Azam Pourahmadiyan, Hossein Shojaaldini Ardakani, Shahram Savad, Shahab Noorian |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Microcephaly Pathology medicine.medical_specialty business.industry BRAT1 General Neuroscience Epileptic encephalopathy macromolecular substances General Medicine medicine.disease BRAT1 gene 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Rigidity (electromagnetism) Medicine business 030217 neurology & neurosurgery |
| Zdroj: | International Journal of Neuroscience. 131:875-878 |
| ISSN: | 1543-5245 0020-7454 |
| Popis: | Introduction: Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) is a severe autosomal recessive epileptic encephalopathy characterized by microcephaly, rigidity, intractable focal se... |
| Databáze: | OpenAIRE |
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