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The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterized by simplification or absence of folding) associated with abnormal organization of the cortical layers as a result of neuronal migration defects during embryogenesis.
Biomarker and diagnostic research for lissencephaly spectrum disorders has been reported in the published literature.
No clinical trials have been registered for lissencephaly spectrum disorders.
100 publications have been identified in PubMed for lissencephaly spectrum disorders. Kisho has analyzed 71 by research type. Research spans Basic Science / Preclinical (31%), Review / Meta-Analysis (27%), and Case Report / Case Series (24%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 22 | 31% |
Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 7:14 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Research summaries |
19 |
27% |
Patient case studies | 17 | 24% |
Testing and diagnosis research | 5 | 7% |
New treatment approaches | 5 | 7% |
Disease patterns and progression | 3 | 4% |
Matoo S (2026). [PMID: 41997870](https://pubmed.ncbi.nlm.nih.gov/41997870/). *J Neurosci*. [Basic Science / Preclinical]
Helms M (2026). [PMID: 41565369](https://pubmed.ncbi.nlm.nih.gov/41565369/). *Ophthalmic Genet*. [Review / Meta-Analysis]
Levine JM (2026). [PMID: 41544630](https://pubmed.ncbi.nlm.nih.gov/41544630/). *Am J Hum Genet*. [Gene Therapy / Novel Therapeutics]
Gamirova RG (2026). [PMID: 42133428](https://pubmed.ncbi.nlm.nih.gov/42133428/). *Zh Nevrol Psikhiatr Im S S Korsakova*. [Review / Meta-Analysis]
Betting T (2026). [PMID: 41932774](https://pubmed.ncbi.nlm.nih.gov/41932774/). *Neuroimaging Clin N Am*. [Review / Meta-Analysis]
Rao Q (2026). [PMID: 41708859](https://pubmed.ncbi.nlm.nih.gov/41708859/). *Nature*. [Epidemiology / Natural History]
Achkasova KA (2026). [PMID: 41892327](https://pubmed.ncbi.nlm.nih.gov/41892327/). *Cells*. [Review / Meta-Analysis]
Pehlivan D (2026). [PMID: 41734767](https://pubmed.ncbi.nlm.nih.gov/41734767/). *Am J Hum Genet*. [Basic Science / Preclinical]
Huang R (2026). [PMID: 41853045](https://pubmed.ncbi.nlm.nih.gov/41853045/). *Brain communications*. [Epidemiology / Natural History]
Yehuda B (2026). [PMID: 41720847](https://pubmed.ncbi.nlm.nih.gov/41720847/). *Sci Rep*. [Basic Science / Preclinical]
AI-curated news mentioning lissencephaly spectrum disorders
Updated Aug 27, 2026
A recent study highlights the use of genotype-driven MRI re-evaluation to identify subtle features of PAFAH1B1-related lissencephaly. This research could enhance diagnostic accuracy for patients with this rare brain malformation.
A recent study published in PubMed examines the long-term neurodevelopmental outcomes and quality of life in patients with lissencephaly related to specific genes including LIS1, PAFAH1B1, DCX, DYNC1H1, TUBA1A, and TUBG1. The findings provide valuable insights into the gene-specific trajectories of these patients.