1. Aamar, E. and I.B. Dawid, Protocadherin-18a has a role in cell adhesion, behavior and migration in zebrafish development. Dev Biol, 2008. 318(2): p. 335-46.
2. Biswas, S., M.R. Emond, and J.D. Jontes, Protocadherin-19 and N-cadherin interact to control cell movements during anterior neurulation. J Cell Biol, 2010. 191(5): p. 1029-41.
3. Blanco, P., et al., Conservation of PCDHX in mammals; expression of human X/Y genes predominantly in brain. Mamm Genome, 2000. 11(10): p. 906-14.
4. Chen, X. and B.M. Gumbiner, Paraxial protocadherin mediates cell sorting and tissue morphogenesis by regulating C-cadherin adhesion activity. J Cell Biol, 2006. 174(2): p. 301-13.
5. Claes, L., et al., De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet, 2001. 68(6): p. 1327-32.
6. Cooper, E.C., The cadherin superfamily and epileptogenesis: end of the beginning? Epilepsy Curr, 2009. 9(3): p. 87-9.
7. Dalla Bernardina, B., et al., Nosological classification of epilepsies in the first three years of life. Prog Clin Biol Res, 1983. 124: p. 165-83.
8. Depienne, C., et al., Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet, 2009. 5(2): p. e1000381.
9. Depienne, C., et al., Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. Hum Mutat, 2011. 32(1): p. E1959-75.
10. Dibbens, L.M., et al., X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet, 2008. 40(6): p. 776-81.
11. Dibbens, L.M., et al., Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations. Neurology, 2011. 76(17): p. 1514-9.
12. Emond, M.R., S. Biswas, and J.D. Jontes, Protocadherin-19 is essential for early steps in brain morphogenesis. Dev Biol, 2009. 334(1): p. 72-83.
13. Engel, J., International League Against Epilepsy (ILAE). A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. Epilepsia, 2001(42): p. 796–803.
14. Fabisiak, K. and R.P. Erickson, A familial form of convulsive disorder with or without mental retardation limited to females: extension of a pedigree limits possible genetic mechanisms. Clin Genet, 1990. 38(5): p. 353-8.
15. Frank, M. and R. Kemler, Protocadherins. Curr Opin Cell Biol, 2002. 14(5): p. 557-62.
16. Guerrini, R., G. Casari, and C. Marini, The genetic and molecular basis of epilepsy. Trends Mol Med, 2003. 9(7): p. 300-6.
17. Guerrini, R., Epilepsy in children. Lancet, 2006. 367(9509): p. 499-524.
18. Hirano, S., S.T. Suzuki, and C. Redies, The cadherin superfamily in neural development: diversity, function and interaction with other molecules. Front Biosci, 2003. 8: p. d306-55.
19. Homayouni, R., D.S. Rice, and T. Curran, Disabled-1 interacts with a novel developmentally regulated protocadherin. Biochem Biophys Res Commun, 2001. 289(2): p. 539-47.
20. Hynes, K., et al., Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. J Med Genet, 2010.
47(3): p. 211-6.
21. Jamal, S.M., et al., Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome. Am J Med Genet A, 2010. 152A(10): p. 2475-81.
22. Johnson, W.G., Metabolic interference and the + - heterozygote. a hypothetical form of simple inheritance which is neither dominant nor recessive. Am J Hum Genet, 1980. 32(3): p. 374-86.
23. Juberg, R.C. and C.D. Hellman, A new familial form of convulsive disorder and mental retardation limited to females. J Pediatr, 1971. 79(5): p. 726-32.
24. Kim, S.Y., et al., Spatiotemporal expression pattern of non-clustered protocadherin family members in the developing rat brain. Neuroscience, 2007. 147(4): p. 996-1021.
25. Kohmura, N., et al., Diversity revealed by a novel family of cadherins expressed in neurons at a synaptic complex. Neuron, 1998. 20(6): p. 1137-51.
26. Krishna, K.K., N. Hertel, and C. Redies, Cadherin expression in the somatosensory cortex: evidence for a combinatorial molecular code at the single-cell level. Neuroscience, 2011. 175: p. 37-48.
27. Marini, C., et al., Protocadherin 19 mutations in girls with infantile-onset epilepsy. Neurology, 2010. 75(7): p. 646-53.
28. Morishita, H., et al., Structure of the cadherin-related neuronal receptor/protocadherin-alpha first extracellular cadherin domain reveals diversity across cadherin families. J Biol Chem, 2006. 281(44): p. 33650-63.
29. Murakami, T., et al., Zebrafish protocadherin 10 is involved in paraxial mesoderm development and somitogenesis. Dev Dyn, 2006. 235(2): p. 506-14.
30. Nakao, S., et al., Contact-dependent promotion of cell migration by the OL-protocadherin-Nap1 interaction. J Cell Biol, 2008. 182(2): p. 395-410.
31. Nollet, F., P. Kools, and F. van Roy, Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members. J Mol Biol, 2000. 299(3): p. 551-72.
32. Page, D.C., et al., Occurrence of a transposition from the X-chromosome long arm to the Y-chromosome short arm during human evolution. Nature, 1984. 311(5982): p. 119-23.
33. Pinto, D., et al., Copy-number variation in control population cohorts. Hum Mol Genet, 2007. 16 Spec No. 2: p. R168-73.
34. Redies, C., K. Vanhalst, and F. Roy, delta-Protocadherins: unique structures and functions. Cell Mol Life Sci, 2005. 62(23): p. 2840-52.
35. Roll, P., et al., SRPX2 mutations in disorders of language cortex and cognition. Hum Mol Genet, 2006. 15(7): p. 1195-207.
36. Ryan, S.G., et al., Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing. Nat Genet, 1997. 17(1): p. 92-5.
37. Sano, K., et al., Protocadherins: a large family of cadherin-related molecules in central nervous system. EMBO J, 1993. 12(6): p. 2249-56.
38. Scheffer, I.E., et al., Epilepsy and mental retardation limited to females: an under-recognized disorder. Brain, 2008. 131(Pt 4): p. 918-27.
39. Senzaki, K., M. Ogawa, and T. Yagi, Proteins of the CNR family are multiple receptors for Reelin. Cell, 1999. 99(6): p. 635-47.
40. Specchio, N., et al., Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations. Epilepsia, 2011.
41. Tao, J., et al., Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet, 2004. 75(6): p. 1149-54.
42. Vanhalst, K., et al., delta-Protocadherins: a gene family expressed differentially in the mouse brain. Cell Mol Life Sci, 2005. 62(11): p. 1247-59.
43. Wallace, R.H., et al., Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Nat Genet, 1998. 19(4): p. 366-70.
44. Weaving, L.S., et al., Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet, 2004. 75(6): p. 1079-93.
45. Wettke-Schafer, R. and G. Kantner, X-linked dominant inherited diseases with lethality in hemizygous males. Hum Genet, 1983. 64(1): p. 1-23.
46. Wieland, I., et al., Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. Am J Hum Genet, 2004. 74(6): p. 1209-15.
47. Wu, Q. and T. Maniatis, A striking organization of a large family of human neural cadherin-like cell adhesion genes. Cell, 1999. 97(6): p. 779-90.
48. Yagi, T. and M. Takeichi, Cadherin superfamily genes: functions, genomic organization, and neurologic diversity. Genes Dev, 2000. 14(10): p. 1169-80.
49. Yoshida, K. and S. Sugano, Identification of a novel protocadherin gene (PCDH11) on the human XY homology region in Xq21.3. Genomics, 1999. 62(3): p. 540-3.
