Andreas Rett and benign familial neonatal convulsions revisited

Abstract

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.

Correlating the Clinical and Genetic Features of Benign Familial Neonatal Seizures (BFNS) with the Functional Consequences of Underlying Mutations

“…15 was identified. 19 These results raise the intriguing possibility that specific Kv7.2 gene defects may be responsible for the early appearance of BRE and, possibly, of various epilepsies or epilepsy-associated EEG traits. It is tempting to speculate that more dramatic functional consequences (such as a complete mutation-induced loss of channel function) maybe also responsible for more serious BFNS-associated clinical phenotypes, such as mild mental retardation and West syndrome, 20 or delayed age of remission; 21 this view seems to be supported by the observation that BFNS patients carrying more distal C-terminus mutations (frameshift at G866) which produced less dramatic consequences in functional expression studies, appear to be affected by classical BFNS with no atypical clinico-electrophysiological features after the BFNS symptoms have disappeared.…”

Thirty Neurological Eponyms Associated with the Nazi Era

“…6), known for his struggle for the rights of mentally disabled children in the post-war era, was a member of the National Socialist German Workers’ Party (NSDAP) [31] and had served in the German navy during the Second World War. In the early 1950s he started a clinic in Vienna for children with mental disorders despite opposition from influential colleagues who claimed, ‘these idiots are a disgrace to the hospital’ [32]. Many of his patients had survived the child ‘euthanasia’ project at Spiegelgrund [32].…”

“…In the early 1950s he started a clinic in Vienna for children with mental disorders despite opposition from influential colleagues who claimed, ‘these idiots are a disgrace to the hospital’ [32]. Many of his patients had survived the child ‘euthanasia’ project at Spiegelgrund [32]. Rett, who became a Freemason after the war, received a prestigious prize for his fight for the rights of disabled children.…”

“…Rett, who became a Freemason after the war, received a prestigious prize for his fight for the rights of disabled children. Zimperich et al [32] call him a ‘social reformer [offering] a dignified and purposeful life to many who had been considered a hopeless burden to society’. Yet Medline lists a paper from 1968 that Rett wrote together with Heinrich Gross, the NS-euthanasia physician referred to above [33].…”

Cortical hyperexcitability and epileptogenesis: Understanding the mechanisms of epilepsy – Part 1

“…Seizures occur in well newborn infants from the second or third day of life and usually remit by 6 weeks. 31 In the CNS, KCNQ genes are important in regulating neuronal excitability by controlling the duration of the action potential and responsiveness to synaptic inputs. 32 The heteromeric assembly of KCNQ2 and KCNQ3 encoded K + channel subunits forms the M-channel.…”