Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mosaic mutations of the <i>LIS1</i> gene cause subcortical band heterotopia

28 Oct 2003

Abstract excerpt

BACKGROUND: Subcortical band heterotopia (SBH) is a neuronal migration disorder. DCX mutations are responsible for almost all familial cases, 80% of sporadic female cases, and 25% of sporadic male cases of SBH, and are associated with more severe gyral and migration abnormality over the anterior brain regions. Somatic mosaicism has previously been hypothesized in a patient with posteriorly predominant SBH and a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Congenital gastrointestinal and neural anomalies
Share to Fetal and Pediatric Neurological Disorders
Share to Teratomas and Epidermoid Cysts

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 14581661
DOI: 10.1212/wnl.61.8.1042

Provenance

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mosaic mutations of the <i>LIS1</i> gene cause subcortical band heterotopiaPMID 14581661Read ↗

Subcortical Band Heterotopia in Rare Affected Males Can be Caused by Missense Mutations in DCX (XLIS) or LIS1Semantic proximity Read ↗

Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females.Semantic proximity Read ↗

Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: the key questions answered.Semantic proximity Read ↗

Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.Semantic proximity Read ↗

Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis.Semantic proximity Read ↗

Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).Semantic proximity Read ↗

Location and type of mutation in the LIS1 gene do not predict phenotypic severity.Semantic proximity Read ↗

LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.Semantic proximity Read ↗

A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies.Semantic proximity Read ↗

New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.Semantic proximity Read ↗

Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia.Semantic proximity Read ↗

X-linked malformations of neuronal migrationSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.