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Article

Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP2 mutation.

Developmental medicine and child neurology - 1 Jan 2014

Venkateswaran Sunita, McMillan Hugh J, Doja Asif, Humphreys Peter

Abstract excerpt

The phenotype attributed to MECP2 mutations continues to expand. In addition to classic and variant Rett syndrome, phenotypes include non-specific intellectual disability and autism spectrum disorder in females, and fatal neonatal encephalopathy in males. One particular phenotype of parkinsonism, pyramidal signs, and neuropsychiatric symptoms (PPM-X) has been described only in males. We report on the first female...

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Source

Identifiers

PMID: 24328834
DOI: 10.1111/dmcn.12334

Genes

MECP2

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