Journal article
Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma
TE Green, A Fujita, N Ghaderi, EL Heinzen, N Matsumoto, KM Klein, SF Berkovic, MS Hildebrand
Neurobiology of Disease | Published : 2023
Abstract
Hypothalamic hamartoma (HH) is a rare benign developmental brain lesion commonly associated with a well characterized epilepsy phenotype. Most individuals with HH are non-syndromic without additional developmental anomalies nor a family history of disease. Nonetheless, HH is a feature of Pallister-Hall (PHS) and Oro-Facial-Digital Type VI (OFD VI) syndromes, both characterized by additional developmental anomalies. Initial genetic of analysis HH began with syndromic HH, where germline inherited or de novo variants in GLI3, encoding a central transcription factor in the sonic hedgehog (Shh) signalling pathway, were identified in most individuals with PHS. Following these discoveries in syndro..
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Awarded by Takeda Science Foundation
Funding Acknowledgements
We are grateful to the Hope for Hypothalamic Hamartoma Foundation for their generous support of our study. This study was supported by an Australian National Health and Medical Research Council (NHMRC) Program Grant (1091593) S.F.B. This work was made possible through Victorian State Government Operational Infrastructure Support and Australian Government NHMRC IRIISS. This work was supported by the Japan Agency for Medical Research and Development (AMED) [grant numbers JP22ek0109486, JP22ek0109549, JP22ek0109493]; the Japan Society for the Promotion of Science (JSPS) KAKENHI Grant-inAid for Scientific Research (C) [grant Number JP20K17936/22K15901]; the Takeda Science Foundation. Figures created with BioRender.