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Updated: Jun 13, 2025

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Genetic Insights Into Hypothalamic Hamartoma: Unraveling Somatic Variants

Lina Sami1, Mathilde Chipaux1, Sarah Ferrand-Sorbets1

  • 1From the Institut du Cerveau-Paris Brain Institute-ICM (L.S., M.D., J.-M.D.S.A., E.L., Sara Baldassari, Stephanie Baulac), Sorbonne Université, Inserm, CNRS, Hôpital de la Pitié Salpêtrière; Department of Pediatric Neurosurgery (M.C., S.F.-S., C.B., E.R., S.R., G.D., R.C.), Rothschild Foundation Hospital EPICARE; Department of Medical Genetics (J.-M.D.S.A., E.L.), AP-HP, Sorbonne Université, Hôpital de la Pitié Salpêtrière; and Université de Paris Cité (H.A.-B.), service d'Anatomie Pathologique, AP-HP, Hôpital Lariboisière, DMU DREAM, Biobank BB-0033-00064, UMR 1141, INSERM, Paris, France.

Neurology. Genetics
|September 9, 2024
PubMed
Summary

This study identifies genetic causes for hypothalamic hamartomas (HHs), linking somatic variants in Shh and cilia genes, and a novel gene, TNK2, to this rare epilepsy disorder. Genetic testing of brain tissue is crucial for diagnosis.

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