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 career of Dr. Rett, a researcher and social reformer as well as an advocate for the rights of children with developmental disabilities.
Zimprich
F
F
Department of Clinical Neurology, Medical University of Vienna, Austria. friedrich.zimprich@meduniwien.ac.at
Ronen
G M
GM
Stögmann
W
W
Baumgartner
C
C
Stögmann
E
E
Rett
B
B
Pappas
C
C
Leppert
M
M
Singh
N
N
Anderson
V E
VE
D000368:Aged; D002675:Child, Preschool; D020936:Epilepsy, Benign Neonatal / Q000235:genetics*; D005192:Family Health; D005260:Female; D005500:Follow-Up Studies; D049673:History, 20th Century; D006801:Humans; D051658:KCNQ2 Potassium Channel / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics; D010372:Pediatrics / Q000266:history*; D020641:Polymorphism, Single Nucleotide
D051658:KCNQ2 Potassium Channel