Literature DB >> 18057317

Somatic mutations in GLI3 can cause hypothalamic hamartoma and gelastic seizures.

R H Wallace1, J L Freeman, M R Shouri, P A Izzillo, J V Rosenfeld, J C Mulley, A S Harvey, S F Berkovic.   

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Year:  2007        PMID： 18057317     DOI： 10.1212/01.wnl.0000284607.12906.c5

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  7 in total

Review 1.  Somatic variants in epilepsy - advancing gene discovery and disease mechanisms.

Authors:  Erin L Heinzen
Journal:  Curr Opin Genet Dev       Date:  2020-05-15       Impact factor: 5.578

2.  Gonadotropin-dependent precocious puberty: neoplastic causes and endocrine considerations.

Authors:  Matthew D Stephen; Peter E Zage; Steven G Waguespack
Journal:  Int J Pediatr Endocrinol       Date:  2011-03-06

3.  SOX2 hypomorphism disrupts development of the prechordal floor and optic cup.

Authors:  Lee Langer; Olena Taranova; Kathleen Sulik; Larysa Pevny
Journal:  Mech Dev       Date:  2012-04-12       Impact factor: 1.882

4.  Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.

Authors:  Timothy E Green; Joshua E Motelow; Mark F Bennett; Zimeng Ye; Caitlin A Bennett; Nicole G Griffin; John A Damiano; Richard J Leventer; Jeremy L Freeman; A Simon Harvey; Paul J Lockhart; Lynette G Sadleir; Amber Boys; Ingrid E Scheffer; Heather Major; Benjamin W Darbro; Melanie Bahlo; David B Goldstein; John F Kerrigan; Erin L Heinzen; Samuel F Berkovic; Michael S Hildebrand
Journal:  Hum Mol Genet       Date:  2022-07-21       Impact factor: 5.121

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

Authors:  Michael S Hildebrand; Nicole G Griffin; John A Damiano; Elisa J Cops; Rosemary Burgess; Ezgi Ozturk; Nigel C Jones; Richard J Leventer; Jeremy L Freeman; A Simon Harvey; Lynette G Sadleir; Ingrid E Scheffer; Heather Major; Benjamin W Darbro; Andrew S Allen; David B Goldstein; John F Kerrigan; Samuel F Berkovic; Erin L Heinzen
Journal:  Am J Hum Genet       Date:  2016-07-21       Impact factor: 11.025

6.  Distinct temporal requirements for Sonic hedgehog signaling in development of the tuberal hypothalamus.

Authors:  Tanya S Corman; Solsire E Bergendahl; Douglas J Epstein
Journal:  Development       Date:  2018-11-02       Impact factor: 6.868

7.  Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma.

Authors:  Hirotomo Saitsu; Masaki Sonoda; Takefumi Higashijima; Hiroshi Shirozu; Hiroshi Masuda; Jun Tohyama; Mitsuhiro Kato; Mitsuko Nakashima; Yoshinori Tsurusaki; Takeshi Mizuguchi; Satoko Miyatake; Noriko Miyake; Shigeki Kameyama; Naomichi Matsumoto
Journal:  Ann Clin Transl Neurol       Date:  2016-03-24       Impact factor: 4.511
  7 in total

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