Article
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.
Human molecular genetics - 1 Dec 1998
Pilz D T, Matsumoto N, Minnerath S, Mills P, Gleeson J G, Allen K M, Walsh C A, Barkovich A J, Dobyns W B, Ledbetter D H, Ross M E
Abstract excerpt
Classical lissencephaly (LIS) is a neuronal migration disorder resulting in brain malformation, epilepsy and mental retardation. Deletions or mutations of LIS1 on 17p13.3 and mutations in XLIS ( DCX ) on Xq22.3-q23 produce LIS. Direct DNA sequencing of LIS1 and XLIS was performed in 25 children w...
Topics
- 1-Alkyl-2-acetylglycerophosphocholine Esterase
- Amino Acid Sequence
- Brain
- DNA
- DNA Mutational Analysis
- Doublecortin Domain Proteins
- Doublecortin Protein
- Exons
- Female
- Genotype
- Humans
- Intellectual Disability
- Introns
- Male