A5107015316- Teratomas and Epidermoid Cysts
- Hedgehog Signaling Pathway Studies
- Pharmacological Effects and Toxicity Studies
Université Paris Cité
2024
Centre National de la Recherche Scientifique
2024
Assistance Publique – Hôpitaux de Paris
2024
NeuroDiderot
2024
Sorbonne Université
2024
Institut du Cerveau
2024
Hôpital Lariboisière
2024
Inserm
2024
Hypothalamic hamartomas (HHs) are rare developmental brain lesions associated with drug-resistant epilepsy and often subjected to surgery. Brain somatic variants in genes affecting the Sonic hedgehog (Shh) primary cilia signaling pathways have been implicated approximately 50% of nonsyndromic HH cases. This study aims characterize a new cohort 9 cases elucidate their genetic etiology. We recruited including 8 which 4 were type IV HH. Genomic DNA was extracted from peripheral blood surgical...