Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings

@article{Ferreira2015LateDO,
  title={Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings},
  author={Patrick Ferreira and Stephanie M. Luco and Sarah L. Sawyer and Jorge Davila and Kym M. Boycott and David A Dyment},
  journal={Neurology: Genetics},
  year={2015},
  volume={2}
}
Cerebral folate deficiency is a genetically heterogeneous condition.1 Mutations in FOLR1 are responsible for a rare but treatable form of cerebral folate deficiency (OMIM #613068).1 The gene codes for folate receptor alpha (FRα), a specific CNS folate transporter. Individuals with FOLR1-related folate deficiency present with ataxia, dyskinesia, spasticity, seizures, and regression in cognitive abilities and motor skills during early childhood.2 Seizures commonly observed include generalized… 

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2 siblings who presented with global developmental delay and intractable seizures who responded clinically to folinic acid therapy was dramatic with improvement in social interaction, mobility, and complete seizure control.

Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency.

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