Hypothalamic hamartomas with gelastic seizures
Hypothalamic hamartomas with gelastic seizures is a rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e. ictal crying) seizures due to non-neoplastic developmental malformation – hypothalamic hamartomas. In many patients seizures progress to other seizure types including focal and generalized seizures with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
Hypothalamic hamartomas with gelastic seizures?
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Hope for Hypothalamic Hamartomas
Hope for Hypothalamic Hamartomas drives education, support and research in this complex syndrome. We focus our efforts and funding on early detection, improved treatments, and managing HH as a complex medical syndrome with the goal of one day finding a cure.
Genetic Epilepsy Team Australia
Collaboration of research and care
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.