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Article

CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

1 Feb 2005

Abstract excerpt

BACKGROUND: Rett syndrome is a severe neurodevelopmental disorder, almost exclusively affecting females and characterised by a wide spectrum of clinical manifestations. Both the classic form and preserved speech variant of Rett syndrome are due to mutations in the MECP2 gene. Several other variants of Rett syndrome have been described. In 1985, Hanefeld described a variant with the early appearance of...

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PMID: 15689447
DOI: 10.1136/jmg.2004.026237

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Related research

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Research trail→

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CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasmsPMID 15689447Read ↗

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