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

Topics Community

Article

Lissencephaly: Expanded imaging and clinical classification.

American journal of medical genetics. Part A - 1 Jun 2017

Di Donato Nataliya, Chiari Sara, Mirzaa Ghayda M, Aldinger Kimberly, Parrini Elena, Olds Carissa, Barkovich A James, Guerrini Renzo, Dobyns William B

Abstract excerpt

Lissencephaly ("smooth brain," LIS) is a malformation of cortical development associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri. The LIS spectrum includes agyria, pachygyria, and subcortical band heterotopia. Our first classification of LIS and subcortical band heterotopia (SBH) was developed to distinguish between the first two genetic causes of LIS-LIS1...

Topics

1-Alkyl-2-acetylglycerophosphocholine Esterase
Adolescent
Adult
Cerebral Cortex
Child
Child, Preschool
Classical Lissencephalies and Subcortical Band Heterotopias
Doublecortin Domain Proteins
Doublecortin Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Female

Humans

Infant

Infant, Newborn

Lissencephaly

Magnetic Resonance Imaging

Male

Microtubule-Associated Proteins

Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 28440899
DOI: 10.1002/ajmg.a.38245
PMCID: PMC5526446

Genes

DCX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Lissencephaly: Expanded imaging and clinical classification.PMID 28440899Read ↗

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

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

Genotypically defined lissencephalies show distinct pathologies.Semantic proximity Read ↗

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

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

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

Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield.Semantic proximity Read ↗

Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum.Semantic proximity Read ↗

The genetics of lissencephaly.Semantic proximity Read ↗

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

Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects.Semantic proximity Read ↗

Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations.Semantic proximity Read ↗

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