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Article

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

Pediatric radiology - 1 Nov 2000

Poussaint T Y, Fox J W, Dobyns W B, Radtke R, Scheffer I E, Berkovic S F, Barnes P D, Huttenlocher P R, Walsh C A

Abstract excerpt

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...

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Identifiers

PMID: 11100490
DOI: 10.1007/s002470000312

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-11100490-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings.PMID 11100490Read ↗

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Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males.Semantic proximity Read ↗

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