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Paper Details

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy.
Am J Hum Genet
41
2016
CREBBP, GLI2, GLI3, Gelastic Epilepsy, HH, HH epilepsy syndrome, Hedgehog, Hypothalamic Hamartoma, Hypothalamic hamartoma, IHH, PRKACA, SHH, SMO, Shh, Shh genes, Shh pathway gene, Shh pathway genes, cAMP, cAMP-dependent protein kinase, candidate genes, developmental pathway brain disease, drug-resistant epilepsy syndrome, gelastic epilepsy, hamartoma- and leukocyte-derived DNA samples, sonic hedgehog
Author NameAffiliation
Michael S HildebrandEpilepsy Research Center, The University of Melbourne and Austin Health
Lynette G SadleirUniversity of Otago
Ingrid E SchefferEpilepsy Research Center, The University of Melbourne and Austin Health, University of Melbourne and The Royal Children's Hospital, Australia The Florey Institute of Neuroscience and Mental Health
Andrew S AllenDuke University
David B GoldsteinInstitute for Genomic Medicine, Columbia University
David B GoldsteinInstitute for Genomic Medicine, Columbia University
Erin L HeinzenInstitute for Genomic Medicine, Columbia University
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