Instead Stanley devoted time to motherhood, and in 2007 became an Ambassador for Rett New Zealand, an organisation to assist children and their families that suffer from Rett syndrome.
Neurolixis announced that it intends to re-purpose F-15,599 for the treatment of Rett syndrome.
Rett syndrome, neurodevelopmental disorder of the grey matter of the brain that affects girls almost exclusively
In less than 10% of RTT cases, mutations in the genes CDKL5 or FOXG1 have also been found to resemble it.
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Zappella variant of Rett Syndrome or preserved speech variant: in this subtype of Rett syndrome the patients acquire some manual skills and language is partially recovered around the age of 5 years (that is after the regression phase).
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An atypical form of RTT, characterized by infantile spasms or early onset epilepsy, can also be caused by a mutation to the gene encoding cyclin-dependent kinase-like 5 (CDKL5).
Down syndrome | Tourette syndrome | Asperger syndrome | Marfan syndrome | Down Syndrome | Turner syndrome | Down's syndrome | Asperger's syndrome | Williams syndrome | Stockholm syndrome | Severe acute respiratory syndrome | Rett syndrome | Irukandji syndrome | Chronic fatigue syndrome | Wiskott–Aldrich syndrome protein | Tourette Syndrome Association | syndrome | severe acute respiratory syndrome | Premenstrual syndrome | Le syndrome de Peter Pan | Alport syndrome | Usher syndrome | The China Syndrome | Sudden Infant Death Syndrome | Stockholm Syndrome (band) | Stockholm Syndrome | Stickler syndrome | Stevens–Johnson syndrome | Sjögren's syndrome | rett |
Her residency as a neurological pediatrician brought Rett syndrome to her attention, and she learned molecular genetics from Arthur Beaudet in order to do research on Rett's and other genetic neurological disorders.