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Article

Filamin A mutation associated with normal reading skills and dyslexia in a family with periventricular heterotopia.

American journal of medical genetics. Part A - 1 Aug 2012

Reinstein Eyal, Chang Bernard S, Robertson Stephen P, Rimoin David L, Katzir Tami

Abstract excerpt

Periventricular heterotopia (PH) is a disorder of neuronal migration during fetal development that is characterized by morphologically normal neurons being located in an anatomically abnormal position in the mature brain. PH is usually diagnosed in patients presenting with a seizure disorder, when neuroimaging demonstrates the ectopically placed nodules of neurons. PH is a genetically and phenotypically...

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Source

Identifiers

PMID: 22740120
DOI: 10.1002/ajmg.a.35455

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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Filamin A mutation associated with normal reading skills and dyslexia in a family with periventricular heterotopia.PMID 22740120Read ↗

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47 patients with FLNA associated periventricular nodular heterotopia.Semantic proximity Read ↗

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Paternal inheritance of classic X-linked bilateral periventricular nodular heterotopia.Semantic proximity Read ↗

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

Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.Semantic proximity Read ↗

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