Article
Chromosomal abnormality at 6p25.1-25.3 identifies a susceptibility locus for hypothalamic hamartoma associated with epilepsy.
Epilepsy research - 1 Jun 2007
Kerrigan John F, Kruer Michael C, Corneveaux Jason, Panganiban Corrie B, Itty Abraham, Reiman David, Ng Yu-Tze, Stephan Dietrich A, Craig David W
Abstract excerpt
The pathogenesis of hypothalamic hamartoma (HH) associated with epilepsy is unknown. We have identified an individual with HH and refractory epilepsy exhibiting subtle dysmorphic features. High-resolution karyotype identified a duplication of the terminal end of 6p (6p25.1-25.3), confirmed by flu...
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