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Article

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

17 Dec 2021

Abstract excerpt

Hypothalamic hamartoma with gelastic seizures is a well-established cause of drug-resistant epilepsy in early life. The development of novel surgical techniques has permitted the genomic interrogation of hypothalamic hamartoma tissue. This has revealed causative mosaic variants within GLI3, OFD1 and other key regulators of the sonic-hedgehog pathway in a minority of cases. Sonic-hedgehog signalling proteins...

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PMID: 35137044
DOI: 10.1093/hmg/ddab366

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