Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.

doi:10.1016/j.neuron.2020.01.027

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

Community

Back to search

Article

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.

Neuron - 22 Apr 2020

Tsai Meng-Han, Muir Alison M, Wang Won-Jing, Kang Yi-Ning, Yang Kun-Chuan, Chao Nian-Hsin, Wu Mei-Feng, Chang Ying-Chao, Porter Brenda E, Jansen Laura A, Sebire Guillaume, Deconinck Nicolas, Fan Wen-Lang, Su Shih-Chi, Chung Wen-Hung, Almanza Fuerte Edith P, Mehaffey Michele G, Ng Ching-Ching, Chan Chung-Kin, Lim Kheng-Seang, Leventer Richard J, Lockhart Paul J, Riney Kate, Damiano John A, Hildebrand Michael S, Mirzaa Ghayda M, Dobyns William B, Berkovic Samuel F, Scheffer Ingrid E, Tsai Jin-Wu, Mefford Heather C

Abstract excerpt

Lissencephaly (LIS), denoting a "smooth brain," is characterized by the absence of normal cerebral convolutions with abnormalities of cortical thickness. Pathogenic variants in over 20 genes are associated with LIS. The majority of posterior predominant LIS is caused by pathogenic variants in LIS1 (also known as PAFAH1B1), although a significant fraction remains without a known genetic etiology. We now implicate...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Centrosome

Share to Chromosome Aberrations

Share to Cytoskeletal Proteins

Share to Gene Knockdown Techniques

Share to Magnetic Resonance Imaging

Share to Oncogene Proteins, Fusion

Share to Seizures

Source

Open in PubMed Open full text

Identifiers

PMID: 32097630
DOI: 10.1016/j.neuron.2020.01.027
PMCID: PMC7357395

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.PMID 32097630Read ↗

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 ↗

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

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

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

The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.Semantic proximity Read ↗

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

Clinical analysis of PAFAH1B1 gene variants in pediatric patients with epilepsy.Semantic proximity Read ↗

Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly.Semantic proximity Read ↗

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

A <i>CLASP1</i> variant suggests a phenotypic relation with lissencephaly in humansSemantic proximity Read ↗

Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly.Semantic proximity Read ↗

Mutations in cytoplasmic dynein and its regulators cause malformations of cortical development and neurodegenerative diseases.Semantic proximity Read ↗

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