Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance

Alternative Names

  • SeSAMES
  • SeSAME Syndrome
  • Epilepsy, Ataxia, Sensorineural Deafness, and Tubulopathy
  • EAST Syndrome
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WHO-ICD-10 version:2010

Diseases of the nervous system

Episodic and paroxysmal disorders

OMIM Number

612780

Mode of Inheritance

Autosomal recessive

Gene Map Locus

1q23.2

Description

A rare genetic disease characterized by the association of epilepsy, ataxia, sensorineural hearing impairment, and renal tubulopathy. Patients present in infancy with generalized seizures, cerebellar dysfunction (including gait ataxia, intention tremor, and dysdiadochokinesis), and variable developmental delay and sensorineural hearing loss. Laboratory studies show persistent hypokalemic metabolic acidosis with hypomagnesemia. Additional reported neurologic features include brisk deep tendon reflexes, ankle clonus, extensor plantar responses, or nystagmus. [From Orphanet]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
612780.1.1ArabFemaleYesYes Focal-onset seizure; Global developmenta... NM_002241.5:c.179T>CHomozygousAutosomal, RecessiveAl Dhaibani et al. 2018 Proband
612780.1.2ArabFemaleYesYes Bilateral tonic-clonic seizure; Global d... NM_002241.5:c.179T>CHomozygousAutosomal, RecessiveAl Dhaibani et al. 2018 Sister of 612780.1.1
612780.1.3ArabMaleYesYes Bilateral tonic-clonic seizure; Ataxia; ... NM_002241.5:c.179T>CHomozygousAutosomal, RecessiveAl Dhaibani et al. 2018 Brother of 612780.1....
612780.2United Arab EmiratesFemaleYesYes Seizure; Sensorineural hearing impairmen... NM_002241.4:c.847C>GHomozygousAutosomal, RecessiveSaleh et al. 2021 Similarly affected s...
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