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Thiamine-responsive encephalopathy
Disease definition
Thiamine-responsive encephalopathy is a Wernicke-like encephalopathy (see this term) characterized by seizures responsive to high doses of thiamine.
ORPHA:199348
Classification level: Disorder- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Adolescent
- ICD-10: -
- OMIM: 607483
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Summary
Epidemiology
Two cases have been described so far.
Clinical description
Clinical features include epilepsy, nystagmus, ophthalmoplegia and ataxia.
Etiology
The disease results from mutations in the SLC19A3 gene, encoding a thiamine transporter.
Genetic counseling
Transmission is autosomal recessive.
Additional information
Further information on this disease
Health care resources for this disease
Research activities on this disease
Specialised Social Services
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