Epileptic Disorders
MENUEarly infancy-onset stimulation-induced myoclonic seizures in three siblings with inherited glycosylphosphatidylinositol (GPI) anchor deficiency Volume 20, numéro 1, February 2018
TEST YOURSELF
(1) What symptoms should lead physicians to consider the possibility of inherited glycosylphosphatidylinositol (GPI) anchor deficiency in patients with epilepsy?
(2) What types of seizure may occur in patients with inherited GPI anchor deficiency?
(3) Is there any potentially effective regimen other than antiepileptic drugs for the treatment of seizures associated with inherited GPI anchor deficiency?
Answers
(1) Patients with inherited GPI anchor deficiency have a wide range of symptoms, including epilepsy, intellectual disability, motor developmental delay, dysmorphic facial features, multiple organ anomalies, deafness, and elevated serum ALP.
(2) A variety of seizure types, including generalized seizures (tonic, atonic, myoclonic, and absence seizures) and/or focal seizures, are reported in patients with inherited GPI anchor deficiency.
(3) Some studies have reported on the efficacy of vitamin B6 (pyridoxine) treatment.