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lissencephaly
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Genetic Markers
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Most Correlated SNPs
YWHAE
RELN
DCX
ARX
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Pathway Enrichment
Most Correlated Biogroups
neuron migration
cerebral cortex development
PID_LIS1_PATHWAY
pallium development
telencephalon development
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Curated Studies
Most Correlated Studies
Brain gene expression in mouse models of human lissencephaly caused by neuronal migration defects
Neural progenitor stem cells derived from iPSCs of patients with lissencephaly
OMIM - Intellectual disability
OMIM - Disorder of brain
OMIM - Disorder of nervous system
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Literature
Most Relevant Literature
TUBA1A mutation-associated lissencephaly: case report and review of the literature.
Prenatal diagnosis of ring chromosome 2 with lissencephaly and 2p25.3 and 2q37.3 microdeletions dete…
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopa…
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
Post-natal treatment by a blood-brain-barrier permeable calpain inhibitor, SNJ1945 rescued defective…
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Clinical Trials
Most Relevant Clinical Trials
Combining Exome and Transcriptome Data to Unravel the Genetic Basis of the Lissencephalies
Clinical-genetic Investigations in Children With Early Infantile Epilepsies
The Long-term Consequences of Neonatal Encephalopathy in the Hypothermia Era
Investigation of the Usability of the Dynamic Scaffolding System
Human Epilepsy Genetics--Neuronal Migration Disorders Study
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