Related Experiment Video
Updated: Jun 23, 2026
10:46
Sampling Cerebrospinal Fluid and Blood from Lateral Tail Vein in Rats During EEG Recordings
Published on: September 1, 2023
Vitamins, not surgery: spinal fluid testing in hemispheric epilepsy.
Sumit Parikh1, Keith Hyland, Deepak K Lachhwani
1Centers for Pediatric Neurology & Epilepsy, Neuroscience Institute, Cleveland Clinic, Cleveland, OH 44195, USA. parikhs@ccf.org
Pediatric Neurology
|May 13, 2009
Summary
Metabolic testing of spinal fluid can identify rare genetic causes of refractory epilepsy. Early diagnosis and treatment with folinic acid and pyridoxal 5'-phosphate can lead to seizure freedom.
Area of Science:
- Neurology
- Metabolic Disorders
- Genetics
Background:
- Refractory epilepsy and status epilepticus often lack a clear etiology.
- Metabolic testing of cerebrospinal fluid (CSF) is not standard practice for these conditions.
Observation:
- A 9-month-old infant with refractory status epilepticus underwent metabolic evaluation.
- The evaluation revealed a characteristic spinal fluid peak associated with folinic acid-responsive epilepsy.
Findings:
- Genetic testing identified a mutation in the ALDH7A1 gene.
- The patient achieved seizure freedom with folinic acid and pyridoxal 5 phosphate supplementation, avoiding surgery.
Implications:
- CSF metabolic testing should be considered in unexplained refractory epilepsy or status epilepticus.
- ALDH7A1 mutations are a treatable cause of epilepsy.
- Early diagnosis and targeted metabolic therapy can prevent the need for epilepsy surgery.
