Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.

doi:10.1038/ejhg.2012.209

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Article

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.

European journal of human genetics : EJHG - 1 May 2013

Reinstein Eyal, Frentz Sophia, Morgan Tim, García-Miñaúr Sixto, Leventer Richard J, McGillivray George, Pariani Mitchel, van der Steen Anthony, Pope Michael, Holder-Espinasse Muriel, Scott Richard, Thompson Elizabeth M, Robertson Terry, Coppin Brian, Siegel Robert, Bret Zurita Montserrat, Rodríguez Jose I, Morales Carmen, Rodrigues Yuri, Arcas Joaquín, Saggar Anand, Horton Margaret, Zackai Elaine, Graham John M, Rimoin David L, Robertson Stephen P

Abstract excerpt

Mutations conferring loss of function at the FLNA (encoding filamin A) locus lead to X-linked periventricular nodular heterotopia (XL-PH), with seizures constituting the most common clinical manifestation of this disorder in female heterozygotes. Vascular dilatation (mainly the aorta), joint hypermobility and variable skin findings are also associated anomalies, with some reports suggesting that this might...

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Identifiers

PMID: 23032111
DOI: 10.1038/ejhg.2012.209
PMCID: PMC3641385

Genes

FLNA

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Source receipt: pubmed, retrieved 7 Sept 2026.

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