ZIB

Hits per page

hits 1 - 2 | 2 hits

Sorting

Electronic Resource

Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings (2000)

Poussaint, T. Y. ; Fox, J. W. ; Dobyns, W. B. ; [et al.]

Springer

Pediatric radiology 30 (2000), S. 748-755

add to mindlist on the mindlist

Details

ISSN: 1432-1998

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Abstract Background. The filamin-1 (FLN-1) gene is responsible for periventricular nodular heterotopia (PNH), which is an X-linked dominant neuronal migration disorder. Objective. To review the clinical and imaging findings in a series of patients with documented filamin-1 mutations.¶Materials and methods. A retrospective review of the medical records and MR studies of a series of patients with PNH and confirmed FLN-1 mutations was done. There were 16 female patients (age range: .67–71 years; mean = 28.6) with filamin-1 gene mutations. ¶Results. In six of the patients the same mutation was inherited in four generations in one pedigree. In a second pedigree, a distinct mutation was found in two patients in two generations. In a third pedigree, a third mutation was found in four patients in two generations. The remaining four patients had sporadic de novo mutations that were not present in the parents. Ten patients had seizures, and all patients had normal intelligence. In all 16 patients MR demonstrated bilateral near-continuous PNH. There were no consistent radiographic or clinical differences between patients carrying different mutations.¶Conclusion. Patients with confirmed FLN-1 gene mutations are usually female and have a distinctive MR pattern of PNH. Other female patients with this same MR pattern probably harbor FLN-1 mutations and risk transmission to their progeny. This information is important for genetic counseling.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/s002470000312

Permalink

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Paper (German National Licenses)

Fulltext

Electronic Resource

A ring 14 chromosome with deleted short arm (1980)

Amarose, A. P. ; Dorus, Elizabeth ; Huttenlocher, P. R. ; [et al.]

Springer

Human genetics 〈Berlin〉 54 (1980), S. 145-147

add to mindlist on the mindlist

Details

ISSN: 1432-1203