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Article

Sensory stimulus-sensitive drop attacks and basal ganglia calcification: new findings in a patient with FOLR1 deficiency.

Epileptic disorders : international epilepsy journal with videotape - 1 Mar 2014

Toelle Sandra P, Wille David, Schmitt Bernhard, Scheer Ianina, Thöny Beat, Plecko Barbara

Abstract excerpt

Loss-of-function mutations in the FOLR1 gene (MIM *136430), encoding the folate receptor alpha, impair cerebral folate transport and lead to a progressive neurometabolic disorder. We report on a 5-year-old boy with progressive ataxia, from the age of 2 years and 6 months, with myoclonic jerks, regression, and impressive myoclonic tonic spasms with drop attacks, which were partially provoked by touching his face...

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Source

Identifiers

PMID: 24556562
DOI: 10.1684/epd.2014.0629

Genes

FOLR1

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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