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Article

Familial pachygyria in both genders related to a DCX mutation.

Brain & development - 1 Jun 2016

Kim Young Ok, Nam Tai-Seung, Park Chungoo, Kim Seul Kee, Yoon Woong, Choi Seok-Yong, Kim Myeong-Kyu, Woo Young Jong

Abstract excerpt

Doublecortin (DCX) and tubulin play critical roles in neuronal migration. DCX mutations usually cause anterior dominant lissencephaly in males and subcortical band heterotopia (SBH) in females. We used whole-exome sequencing to investigate causative gene variants in a large family with late-childhood-onset focal epilepsy and anterior dominant pachygyria without SBH in both genders. Two potential variants were...

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Share to Doublecortin Domain Proteins
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26743950
DOI: 10.1016/j.braindev.2015.12.005

Genes

DCX
TUBB1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Familial pachygyria in both genders related to a DCX mutation.PMID 26743950Read ↗

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Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.Semantic proximity Read ↗

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