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The Indian Journal of Pediatrics, 1997
Rett syndrome (RS) is a neurological disorder that mainly, and possibly exclusively, affects girls. After its description in 1966 by Andreas Rett in the Wiener Klinische Wochenschrift, awareness and interest in RS were enhanced by the 1983 report of Hagberg et al. in the Annals of Neurology. Diagnosis, and indeed the hypothesis that it exists, continue
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Rett syndrome (RS) is a neurological disorder that mainly, and possibly exclusively, affects girls. After its description in 1966 by Andreas Rett in the Wiener Klinische Wochenschrift, awareness and interest in RS were enhanced by the 1983 report of Hagberg et al. in the Annals of Neurology. Diagnosis, and indeed the hypothesis that it exists, continue
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Neurophysiology of Rett Syndrome
Journal of Child Neurology, 2002Rett syndrome is a neurodevelopmental disorder that in most cases is consequent to a mutation in the MECP2 gene. The central nervous system is the primary organ system involved in Rett syndrome. Neurophysiologic evaluations provide information concerning the developmental aspects of Rett syndrome and the character and extent of involvement of the ...
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Neuropathology of Rett Syndrome
Journal of Child Neurology, 2002Rett syndrome is a sporadic disorder (except for a few familial cases) occurring in 1 in 10,000 to 1 in 23,000 girls worldwide. It is associated with profound mental and motor handicap. About 90% of cases involve a mutation in the methyl-CpG binding protein 2 gene ( MECP2).
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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
Nature Genetics, 1999R. Amir +5 more
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Drug Studies on Rett Syndrome: From Bench to Bedside
Journal of Autism and Developmental Disorders, 2020M. Gomathi +2 more
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