Hypothalamic hamartoma: management

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Hypothalamic hamartoma: management. GLIR, OFD1, PRKACA, TKN2 possibly. Fully referenced neurology checklist.

Genetic mutations

  • GLIR
  • OFD1
  • PRKACA
  • TKN2 possibly

Electroencephalogram (EEG)

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Magnetic resonance imaging (MRI) brain

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Drug treatment

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Surgical ablation

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References

  1. Striano S, Striano P. Clinical features and evolution of the gelastic seizures-hypothalamic hamartoma syndrome. Epilepsia 2017; 58(Suppl 2):12-15. 
  2. Helen Cross J, Spoudeas H. Medical management and antiepileptic drugs in hypothalamic hamartoma. Epilepsia 2017; (58 Suppl 2):16-21. 
  3. Sami L, Chipaux M, Ferrand-Sorbets S, et al. Genetic insights into hypothalamic hamartoma: unraveling somatic variants. Neurol Genet 2024; 10:e200180.
  4. Striano S, Striano P, Sarappa C, Boccella P. The clinical spectrum and natural history of gelastic epilepsy-hypothalamic hamartoma syndrome. Seizure 2005; 14:232-239.
  5. Dericioglu N, Cataltepe O, Tezel GG, Saygi S. Gelastic seizures due to right temporal cortical dysplasia. Epileptic Disord 2005; 7:137-141.
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