Andreas Rett and benign familial neonatal convulsions revisited

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 care...

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Veröffentlicht in:	Neurology 2006-09, Vol.67 (5), p.864-866
Hauptverfasser:	ZIMPRICH, F, RONEN, G. M, STÖGMANN, W, BAUMGARTNER, C, STÖGMANN, E, RETT, B, PAPPAS, C, LEPPERT, M, SINGH, N, ANDERSON, V. E
Format:	Artikel
Sprache:	eng
Schlagworte:	Aged Biological and medical sciences Child, Preschool Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Epilepsy, Benign Neonatal - genetics Family Health Female Follow-Up Studies Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy History, 20th Century Humans KCNQ2 Potassium Channel - genetics Male Medical sciences Mutation - genetics Nervous system (semeiology, syndromes) Neurology Pediatrics - history Polymorphism, Single Nucleotide Rett
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Zusammenfassung:	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.
ISSN:	0028-3878 1526-632X
DOI:	10.1212/01.wnl.0000234066.46806.90