Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy

Hypothalamic hamartoma (HH) with gelastic epilepsy is a well-recognized drug-resistant epilepsy syndrome of early life.(1) Surgical resection allows limited access to the small deep-seated lesions that cause the disease. Here, we report the results of a search for somatic mutations in paired hamarto...

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Publié dans:Am J Hum Genet
Auteurs principaux: Hildebrand, Michael S., Griffin, Nicole G., Damiano, John A., Cops, Elisa J., Burgess, Rosemary, Ozturk, Ezgi, Jones, Nigel C., Leventer, Richard J., Freeman, Jeremy L., Harvey, A. Simon, Sadleir, Lynette G., Scheffer, Ingrid E., Major, Heather, Darbro, Benjamin W., Allen, Andrew S., Goldstein, David B., Kerrigan, John F., Berkovic, Samuel F., Heinzen, Erin L.
Format: Artigo
Langue:Inglês
Publié: Elsevier 2016
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4974069/
https://ncbi.nlm.nih.gov/pubmed/27453577
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.05.031
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