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Hypothalamic hamartomas with gelastic seizures
Disease definition
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.
ORPHA:86906
Classification level: Disorder- Synonym(s): -
- Prevalence: -
- Inheritance: -
- Age of onset: -
- ICD-10: G40.5
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
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