Folinic acid responsive seizures is a rare group of seizures responsive to therapy with folinic acid. This is one of the vitamin-responsive epilepsies.
Clinical features:
(1) early onset (neonatal, infantile) of recurrent, unprovoked seizures
(2) clinical improvement after therapy with folinic acid
(3) presence of an underlying genetic mutation
Mutation in
Consequence
Other
ALDH7A1
antiquitin deficiency
Shared with pyridoxine responsive seizures
FOLR1
folate receptor deficiency
impaired CSF folate transport with low CSF 5-methyltetrahydrofolate
STXBP1
no antiquitin deficiency
Ohtahara syndrome
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