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Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy.
Hildebrand MS, Griffin NG, Damiano JA, Cops EJ, Burgess R, Ozturk E, Jones NC, Leventer RJ, Freeman JL, Harvey AS, Sadleir LG, Scheffer IE, Major H, Darbro BW, Allen AS, Goldstein DB, Kerrigan JF, Berkovic SF, Heinzen EL. Hildebrand MS, et al. Among authors: kerrigan jf. Am J Hum Genet. 2016 Aug 4;99(2):423-9. doi: 10.1016/j.ajhg.2016.05.031. Epub 2016 Jul 21. Am J Hum Genet. 2016. PMID: 27453577 Free PMC article.
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.
Green TE, Motelow JE, Bennett MF, Ye Z, Bennett CA, Griffin NG, Damiano JA, Leventer RJ, Freeman JL, Harvey AS, Lockhart PJ, Sadleir LG, Boys A, Scheffer IE, Major H, Darbro BW, Bahlo M, Goldstein DB, Kerrigan JF, Heinzen EL, Berkovic SF, Hildebrand MS. Green TE, et al. Among authors: kerrigan jf. Hum Mol Genet. 2022 Jul 21;31(14):2307-2316. doi: 10.1093/hmg/ddab366. Hum Mol Genet. 2022. PMID: 35137044 Free PMC article.
The histopathology of hypothalamic hamartomas: study of 57 cases.
Coons SW, Rekate HL, Prenger EC, Wang N, Drees C, Ng YT, Chung SS, Kerrigan JF. Coons SW, et al. Among authors: kerrigan jf. J Neuropathol Exp Neurol. 2007 Feb;66(2):131-41. doi: 10.1097/nen.0b013e3180302090. J Neuropathol Exp Neurol. 2007. PMID: 17278998
Hypothalamic hamartoma: basic mechanisms of intrinsic epileptogenesis.
Fenoglio KA, Wu J, Kim DY, Simeone TA, Coons SW, Rekate H, Rho JM, Kerrigan JF. Fenoglio KA, et al. Among authors: kerrigan jf. Semin Pediatr Neurol. 2007 Jun;14(2):51-9. doi: 10.1016/j.spen.2007.03.002. Semin Pediatr Neurol. 2007. PMID: 17544947 Review.
88 results