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Article

Bilateral frontal periventricular nodular heterotopia: a distinctive cortical malformation.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2026

Hoogwijs Ine, Mandelstam Simone A, McGillivray George, Halliday Benjamin J, Yiu Eppie M, Macdonald-Laurs Emma, Perry David, Patel Rakesh, Gabbett Michael, Patel Chirag, Malone Stephen, Fahey Michael, Gill Deepak, Field Mike, Delatycki Martin B, Mohammad Shekeeb, Berkovic Samuel F, Scheffer Ingrid E, Lockhart Paul J, Jackson Graeme D, Jansen Anna C, Robertson Stephen P, Leventer Richard J

Abstract excerpt

BACKGROUND AND OBJECTIVES: Periventricular nodular heterotopia (PVNH) is a common malformation of cortical development. We describe a distinctive imaging phenotype characterized by bilateral small heterotopic nodules of grey matter in the frontal periventricular regions, with an overview of the clinical, imaging, and genetic features. METHODS: Investigators reviewed available brain MRI studies, clinical records...

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Source

Identifiers

PMID: 41468712
DOI: 10.1016/j.ejpn.2025.12.004

Genes

SACS
FLNA
MAP1B
STXBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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