Periventricular heterotopia: An X-linked dominant epilepsy locus causing aberrant cerebral cortical development

Y. Z. Ekşioǧlu, I. E. Scheffer, P. Cardenas, J. Knoll, F. DiMario, G. Ramsby, M. Berg, K. Kamuro, S. F. Berkovic, G. M. Duyk, J. Parisi, P. R. Huttenlocher, C. A. Walsh

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245 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)77-87
Number of pages11
JournalNeuron
Volume16
Issue number1
DOIs
StatePublished - Jan 1996

ASJC Scopus subject areas

  • Neuroscience(all)

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    Ekşioǧlu, Y. Z., Scheffer, I. E., Cardenas, P., Knoll, J., DiMario, F., Ramsby, G., Berg, M., Kamuro, K., Berkovic, S. F., Duyk, G. M., Parisi, J., Huttenlocher, P. R., & Walsh, C. A. (1996). Periventricular heterotopia: An X-linked dominant epilepsy locus causing aberrant cerebral cortical development. Neuron, 16(1), 77-87. https://doi.org/10.1016/S0896-6273(00)80025-2