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Article

A new missense mutation found in the FLNA gene in a family with bilateral periventricular nodular heterotopia (BPNH) alters the splicing process.

Journal of molecular neuroscience : MN - 1 Jun 2008

Tsuneda Simone S, Torres Fabio R, Montenegro Maria A, Guerreiro Marilisa M, Cendes Fernando, Lopes-Cendes Iscia

Abstract excerpt

We describe the clinical and molecular evaluation of two patients, mother and daughter (proband), with bilateral periventricular nodular heterotopia (BPNH). The clinical evaluation revealed a more severe phenotype in the proband, with mental retardation and seizures. Imaging studies showed bilateral periventricular nodules in both patients. We identified a novel mutation, c.987G-->C mutation in exon 6 of the...

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Source

Identifiers

PMID: 18427995
DOI: 10.1007/s12031-008-9050-1

Genes

FLNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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