Article
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.
Nature genetics - 1 Apr 2002
Strømme Petter, Mangelsdorf Marie E, Shaw Marie A, Lower Karen M, Lewis Suzanne M E, Bruyere Helene, Lütcherath Viggo, Gedeon Agi K, Wallace Robyn H, Scheffer Ingrid E, Turner Gillian, Partington Michael, Frints Suzanna G M, Fryns Jean-Pierre, Sutherland Grant R, Mulley John C, Gécz Jozef
Abstract excerpt
Mental retardation and epilepsy often occur together. They are both heterogeneous conditions with acquired and genetic causes. Where causes are primarily genetic, major advances have been made in unraveling their molecular basis. The human X chromosome alone is estimated to harbor more than 100 genes that, when mutated, cause mental retardation. At least eight autosomal genes involved in idiopathic epilepsy have...
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