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

Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary.

Journal of child neurology - 1 Dec 2012

Mokánszki Attila, Körhegyi Ivett, Szabó Nóra, Bereg Edit, Gergev Gyurgyinka, Balogh Erzsébet, Bessenyei Beáta, Sümegi Andrea, Morris-Rosendahl Deborah J, Sztriha László, Oláh Eva

Abstract excerpt

The spectrum of lissencephaly ranges from absent (agyria) or decreased (pachygyria) convolutions to less severe malformation known as subcortical band heterotopia. Mutations involving LIS1 and TUBA1A result in the classic form of lissencephaly, whereas mutations of the DCX gene cause lissencephaly in males and subcortical band heterotopia in females. This report describes the clinical manifestations and imaging...

Read the complete abstract on PubMed

Topics

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

Share to 1-Alkyl-2-acetylglycerophosphocholine Esterase
Share to Doublecortin Domain Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Doublecortin Protein

Share to Electroencephalography

Share to Hungary

Share to Microtubule-Associated Proteins

Share to Neuropeptides

Share to Tubulin

Source

Identifiers

PMID: 22408144
DOI: 10.1177/0883073811436326

Genes

DCX

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary.PMID 22408144Read ↗

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

Lissencephaly: Expanded imaging and clinical classification.Semantic proximity Read ↗

Lissencephaly: Update on diagnostics and clinical management.Semantic proximity Read ↗

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

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

Identification of DCX gene mutation in lissencephaly spectrum with subcortical band heterotopia using whole exome sequencing.Semantic proximity Read ↗

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

Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.Semantic proximity Read ↗

The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopiaSemantic proximity Read ↗

Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.Semantic proximity Read ↗

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.Semantic proximity Read ↗

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

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