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Article

The location of DCX mutations predicts malformation severity in X-linked lissencephaly.

Neurogenetics - 1 Oct 2008

Leger Pierre-Louis, Souville Isabelle, Boddaert Nathalie, Elie Caroline, Pinard Jean Marc, Plouin Perrine, Moutard Marie Laure, des Portes Vincent, Van Esch Hilde, Joriot Sylvie, Renard Jean Louis, Chelly Jamel, Francis Fiona, Beldjord Cherif, Bahi-Buisson Nadia

Abstract excerpt

Lissencephaly spectrum (LIS) is one of the most severe neuronal migration disorders that ranges from agyria/pachygyria to subcortical band heterotopia. Approximately 80% of patients with the LIS spectrum carry mutations in either the LIS1 or DCX (doublecortin) genes which have an opposite gradient of severity. The aim of the study was to evaluate in detail the phenotype of DCX-associated lissencephaly and to look...

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Identifiers

PMID: 18685874
DOI: 10.1007/s10048-008-0141-5

Genes

DCX

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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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