## Abstract ## Objective We investigated a large consanguineous Moroccan family with progressive myoclonic epilepsy (PME) consistent with autosomal recessive inheritance, to describe the phenotype and identify the causal gene. ## Methods We recorded the clinical course of the disease and the res
Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in theFOLR1gene
✍ Scribed by Belén Pérez-Dueñas; Claudio Toma; Aida Ormazábal; Jordi Muchart; Francesc Sanmartí; Georgina Bombau; Mercedes Serrano; Angels García-Cazorla; Bru Cormand; Rafael Artuch
- Publisher
- Springer
- Year
- 2010
- Tongue
- English
- Weight
- 582 KB
- Volume
- 33
- Category
- Article
- ISSN
- 0141-8955
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