ArticleNeurology. Genetics2024
Genetic Insights Into Hypothalamic Hamartoma: Unraveling Somatic Variants.
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Article in Neurology. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2citing papers in PubMed
–field-weighted citation impact
What it found
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Who cites it
2 citing papers in PubMed.
- Merritt-Putnam Symposium | Tumor-Associated Epilepsy and Epilepsy-Associated Tumors: Exploring the Bidirectional Crosstalk Between Tumors and Seizures.Epilepsy currents · 2026Article
- An update in the MRI features, classification, and associated brain abnormalities in hypothalamic hamartomas.BJR open · 2026Article
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Authors and funding
14 authors.
Lina SamiFrom 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.ORCID https://orcid.org/0009-0002-8422-8186
Mathilde ChipauxFrom 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.ORCID https://orcid.org/0000-0002-8454-7374
Sarah Ferrand-SorbetsFrom 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.ORCID https://orcid.org/0009-0005-1841-0571
Marion DoladilheFrom 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.ORCID https://orcid.org/0009-0000-7502-9850
Christine BulteauFrom 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.ORCID https://orcid.org/0009-0005-5984-9310
Emmanuel RaffoFrom 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.ORCID https://orcid.org/0009-0004-3651-8706
Sarah RosenbergFrom 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.ORCID https://orcid.org/0009-0008-5783-0159
Georg DorfmullerFrom 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.ORCID https://orcid.org/0000-0002-4503-6184
Rayann ChecriFrom 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.ORCID https://orcid.org/0009-0006-9113-6254
Jean-Madeleine De Sainte AgatheFrom 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.ORCID https://orcid.org/0000-0002-7753-8226
Eric LeguernFrom 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.ORCID https://orcid.org/0000-0003-0013-9646
Homa Adle-BiassetteFrom 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.ORCID https://orcid.org/0000-0001-9446-8306
Sara BaldassariFrom 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.ORCID https://orcid.org/0000-0003-4851-2796
Stephanie BaulacFrom 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.ORCID https://orcid.org/0000-0001-6430-4693
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objectives: Hypothalamic hamartomas (HHs) are rare developmental brain lesions associated with drug-resistant epilepsy and often subjected to epilepsy surgery. Brain somatic variants in genes affecting the Sonic hedgehog (Shh) and primary cilia signaling pathways have been implicated in approximately 50% of nonsyndromic HH cases. This study aims to characterize a new cohort of 9 HH cases and elucidate their genetic etiology. Methods: We recruited 9 HH cases including 8 nonsyndromic cases of which 4 were type IV HH. Genomic DNA was extracted from peripheral blood and surgical brain tissues, and somatic variants were investigated using high-depth whole-exome sequencing. Results: Pathogenic somatic variants in known HH genes ( Discussion: Our findings reinforce the role of somatic variants in Shh and cilia genes in HH cases while also shedding light on
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