Andreas Rett and benign familial neonatal convulsions revisited
| Autor: | Nanda A. Singh, B. Rett, W. Stogmann, Fritz Zimprich, Mark Leppert, Christoph Baumgartner, Elisabeth Stögmann, Gabriel M. Ronen, V. E. Anderson, Chris Pappas |
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| Rok vydání: | 2006 |
| Předmět: |
Family Health
Male Pediatrics medicine.medical_specialty business.industry Neurological disorder History 20th Century medicine.disease Polymorphism Single Nucleotide Epilepsy Benign Neonatal Recien nacido Child Preschool Convulsion Mutation Neonatal convulsions Medicine Humans KCNQ2 Potassium Channel Female Neurology (clinical) medicine.symptom business Aged Follow-Up Studies |
| Zdroj: | Neurology. 67(5) |
| ISSN: | 1526-632X |
| Popis: | In 1964 Andreas Rett published the first account of a family with benign familial neonatal convulsions (BFNC). The authors retraced Rett's family and report that the clinical and genetic features of this original family fit the currently accepted definitions of BFNC. They also consider the career of Dr. Rett, a researcher and social reformer as well as an advocate for the rights of children with developmental disabilities. |
| Databáze: | OpenAIRE |
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