Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations
نویسندگان
چکیده
منابع مشابه
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
Periventricular heterotopia (PH) occurs when collections of neurons lay along the lateral ventricles or just beneath. Human Filamin A gene (FLNA) mutations are associated with classical X-linked bilateral periventricular nodular heterotopia (PNH), featuring contiguous heterotopic nodules, mega cisterna magna, cardiovascular malformations and epilepsy. FLNA encodes an F-actin-binding cytoplasmic...
متن کاملFilamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
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...
متن کاملMutations in filamin 1 Prevent Migration of Cerebral Cortical Neurons in Human Periventricular Heterotopia
Long-range, directed migration is particularly dramatic in the cerebral cortex, where postmitotic neurons generated deep in the brain migrate to form layers with distinct form and function. In the X-linked dominant human disorder periventricular heterotopia (PH), many neurons fail to migrate and persist as nodules lining the ventricular surface. Females with PH present with epilepsy and other s...
متن کاملPeriventricular heterotopia.
A 34-year-old epilepsy woman had first seizure when aged 14. Seizure patterns are mainly simple partial type, presented by a sense of air within chest wall rising to head or focal twitching of right hand. She also had generalized tonicclonic seizures before. In recent four years, she did not experience generalized seizure although simple partial seizures were noted average four to five times a ...
متن کاملEtiological heterogeneity of familial periventricular heterotopia and hydrocephalus.
Periventricular heterotopia (PH) represents a neuronal migration disorder that results in gray matter nodules along the lateral ventricles beneath an otherwise normal appearing cortex. While prior reports have shown that mutations in the filamin A (FLNA) gene can cause X-linked dominant PH, an increasing number of studies suggest the existence of additional PH syndromes. Further classification ...
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ژورنال
عنوان ژورنال: Brain
سال: 2006
ISSN: 0006-8950,1460-2156
DOI: 10.1093/brain/awl125