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Article

Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations.

Archives of neurology - 1 Jan 2010

Debs Rabab, Depienne Christel, Rastetter Agnès, Bellanger Agnès, Degos Bertrand, Galanaud Damien, Keren Boris, Lyon-Caen Olivier, Brice Alexis, Sedel Frédéric

Abstract excerpt

OBJECTIVE: To report the first 2 European cases of biotin-responsive basal ganglia disease and novel SLC19A3 mutations. DESIGN: Case reports. SETTING: University hospital. Patients A 33-year-old man and his 29-year-old sister, both of Portuguese ancestry, presented with recurrent episodes of encephalopathy. Between episodes patients exhibited generalized dystonia, epilepsy, and bilateral hyperintensities of the...

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PMID: 20065143
DOI: 10.1001/archneurol.2009.293

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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