@article{f7055ccea9814bf099bf30b33002a7f0,
title = "Periventricular heterotopia: An X-linked dominant epilepsy locus causing aberrant cerebral cortical development",
abstract = "Periventricular heterotopia (PH) involves dramatic malformations of the human cerebral cortex. Here we show that PH is closely linked to markers in distal Xq28 (maximal two-point lod score = 4.77 for F8C at θ = 0; maximal multipoint lod score = 5.37), so that affected females are obligatory mosaics for the mutation; that PH is lethal to at least some affected males; that PH malformations consist of well-differentiated cortical neurons filling the adult subependymal zone; and that individuals with PH are at high risk for epilepsy, though they have no other neurological or external stigmata. The PH gene may represent an important epilepsy susceptibility locus in addition to playing a key role in normal cortical development.",
author = "Ek{\c s}ioǧlu, {Y. Z.} and Scheffer, {I. E.} and P. Cardenas and J. Knoll and F. DiMario and G. Ramsby and M. Berg and K. Kamuro and Berkovic, {S. F.} and Duyk, {G. M.} and J. Parisi and Huttenlocher, {P. R.} and Walsh, {C. A.}",
note = "Funding Information: All correspondence should be addressed to C. A. W. We are most grateful to the families who participated in this study. We also thank investigators who provided samples from singlet cases or small pedigrees from which linkage information was unobtainable: M. Biber, E. Bromfield, A. Cole, W. Dobyns, J. Goodman, E. Miyawaki, R. Radtke, M. Ronthal, S. Schachter, and D. Schomer. We also thank B. Ji, M. H. Chen, and C. J. Russo for technical assistance; K. Allen, V. Magnuson, K. Wiles, and J. Murray for help with markers; J. Weissenbach, D. Schlessinger, A. Poustka, and S. Klauck for providing map information prior to publication; and J. Seidman, J. Ott, and L. Sandkuijl for help with linkage analysis. We thank H. Okazaki and C. McDonough for help obtaining the postmortem tissue and J. Joseph, D. Mandrila, G. Sherman, and L. Stone for help preparing the histological slides. This work was supported by grants to C. A.W. from the Milton Fund, the William Randolph Hearst Fund, the Klingenstein Foundation Fund, the Rita Allen Foundation, and the Human Frontier Science Program. Y. Z. E. was also supported by a postdoctoral fellowship from the Human Frontier Science Program. ",
year = "1996",
month = jan,
doi = "10.1016/S0896-6273(00)80025-2",
language = "English (US)",
volume = "16",
pages = "77--87",
journal = "Neuron",
issn = "0896-6273",
publisher = "Cell Press",
number = "1",
}