Article
Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome.
Epilepsia - 1 Sept 2001
Heilstedt H A, Burgess D L, Anderson A E, Chedrawi A, Tharp B, Lee O, Kashork C D, Starkey D E, Wu Y Q, Noebels J L, Shaffer L G, Shapira S K
Abstract excerpt
PURPOSE: Clinical features associated with chromosome 1p36 deletion include characteristic craniofacial abnormalities, mental retardation, and epilepsy. The presence and severity of specific phenotypic features are likely to be correlated with loss of a distinct complement of genes in each patient. We hypothesize that hemizygous deletion of one, or a few, critical gene(s) controlling neuronal excitability is...
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