EAST syndrome
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
EAST syndrome. Epilepsy, Ataxia, Sensorineural deafness, Tubulopathy. Fully referenced neurology checklist.
Components
- Epilepsy
- Ataxia
- Sensorineural deafness
- Tubulopathy
Genetics
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Clinical features
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Metabolic features
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Investigations
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Anti-seizure treatment
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References
- Bockenhauer D, Feather S, Stanescu HC, et al. Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N Engl J Med 2009; 360:1960-1970.
- Mir A, Chaudhary M, Alkhaldi H, Alhazmi R, Albaradie R, Housawi Y. Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10. Brain Dev 2019; 41:706-715.
- Morin M, Forst AL, Pérez-Torre P, et al. Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype. Neurogenetics 2020; 21:135-143.
- Severino M, Lualdi S, Fiorillo C, Striano P, et al. Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations. J Neurol 2018; 265:1419-1425.
- Abdelhadi O, Iancu D, Stanescu H, Kleta R, Bockenhauer D. EAST syndrome: clinical, pathophysiological, and genetic aspects of mutations in KCNJ10. Rare Dis 2016; 4:e1195043.
