eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | lissencephaly 1 |
| Comorbidity | C0266463|lissencephaly |
| Sentences | 3 |
| PubMedID- 21046408 | In classical lissencephaly due to lis1 or dcx mutations, seizures occur in 75% of infants and develop during the first year of life [35, 110]. |
| PubMedID- 23087837 | Mutants for lis-1, the drosophila homolog of the human lissencephaly protein lis1, show a defect in internalization of the elongated basal bodies from the cell surface in primary spermatocytes.35 as a result, the meiotic spindle poles localize aberrantly at the plasma membrane, resulting in spindle defects. |
| PubMedID- 20227246 | Using microarray-based comparative genomic hybridization, 3 patients with epilepsy were revealed to have genomic copy number aberrations at 17p13.3: a partial lis1 deletion in a patient with isolated lissencephaly and epilepsy, a triplication of lis1 in a patient with symptomatic west syndrome, and a terminal deletion of 17p including ywhae and crk but not lis1 in a patient with intractable epilepsy associated with distinctive facial features and growth retardation. |
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