Heritable syndromes with hypothalamic hamartoma and seizures: using rare syndromes to understand more common
1National Institute of Health, National Human Genome Research Institute, Bethesda, MD 20892-4472, USA. leslieb@helix.nih.gov
Epileptic Disorders : International Epilepsy Journal with Videotape
|February 21, 2004
Abstract:
Manifestations of non-syndromic hypothalamic hamartomas are different from those of the syndromic hamartomas, and the syndromic ones are rare. In spite of the rarity of the syndromic hamartomas, they can be a powerful biological tool to help us understand the pathophysiology of these heritable disorders. Several disorders that include hypothalamic hamartomas are reviewed here and the current understanding of the biology of the lesions is summarized.
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