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

@article{Poussaint2000PeriventricularNH,
  title={Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings},
  author={T Young Poussaint and Jeremy W Fox and William B Dobyns and Rodney R Radtke and Ingrid E. Scheffer and Samuel F. Berkovic and Patrick D. Barnes and Peter R. Huttenlocher and Christopher A. Walsh},
  journal={Pediatric Radiology},
  year={2000},
  volume={30},
  pages={748-755}
}
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… CONTINUE READING

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