Table 1.
Genes regulating neuronal migration
| Gene 1 | Species 2 | Seizures? 3 | Gene identification method | References 4 |
|---|---|---|---|---|
| Pafah1b1 | H,M | Yes | Positional cloning (LIS1 in human), knockout (Pafah1b1 in Mouse) | 1 |
| Doublecortin | H | Yes | Positional cloning (X-linked lissencephaly) | 2 |
| Reelin | M | No | Positional cloning (reeler mutant) | 3 |
| Mdab1 | M | No | Positional cloning (scrambler and yotari mutants) | 4 |
| Cdk5 | M | No | Knockout | 5 |
| p35 (Cdk5r) | M | Yes | Knockout | 6 |
| MARCKS | M | No | Knockout | 7 |
| Pax6 | H, M | No | Positional cloning (aniridia in humans, small eye mutant mouse) | 8 |
| ErbB2 | M | No | Knockout | 9 |
| Neuregulin | R | - | Antibody studies in vitro | 10 |
| Astrotactin | M | - | Antibody studies in vitro | 11 |
Pafah1b1 is platelet activating factor acetylhydrolase β1 subunit; mdab1 is mouse disabled 1; Cdk5 is cyclin dependent kinase 5; MARCKS is myristoylated alanine-rich C kinase substrate.
Species in which gene has been identified or mainly studied: H, human; M, mouse; R, rat.
Seizures have been described in humans with mutations in genes affecting neuronal migration, but not in all mouse models. This may reflect insufficiently detailed study of some of the mouse mutants.
References: 1, (Hirotsune et al. 1998; Hattori et al. 1994; Reiner et al. 1993); 2, (Des Portes et al. 1998; Gleeson et al. 1998); 3, (D’Arcangelo et al. 1995); 4, (Howell et al. 1997; Sheldon et al. 1997; Ware et al. 1997); 5, (Ohshima et al. 1996); 6, (Chae et al. 1997); 7, (Blackshear et al. 1997); 8, (Schmahl et al. 1993; Caric et al. 1997); 9, 10, (Anton et al. 1997; Rio et al. 1997); 11, (Zheng et al. 1996; Fishell and Hatten, 1991).