Article
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
Neurology - 25 Jan 2005
Sheen V L, Jansen A, Chen M H, Parrini E, Morgan T, Ravenscroft R, Ganesh V, Underwood T, Wiley J, Leventer R, Vaid R R, Ruiz D E, Hutchins G M, Menasha J, Willner J, Geng Y, Gripp K W, Nicholson L, Berry-Kravis E, Bodell A, Apse K, Hill R S, Dubeau F, Andermann F, Barkovich J, Andermann E, Shugart Y Y, Thomas P, Viri M, Veggiotti P, Robertson S, Guerrini R, Walsh C A
Abstract excerpt
OBJECTIVE: To define the clinical, radiologic, and genetic features of periventricular heterotopia (PH) with Ehlers-Danlos syndrome (EDS). METHODS: Exonic sequencing and single stranded conformational polymorphism (SSCP) analysis was performed on affected individuals. Linkage analysis using microsatellite markers on the X-chromosome was performed on a single pedigree. Western blotting evaluated for loss of...
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