Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations
K Kohashi, A Ishiyama, S Yuasa, T Tanaka, K Miya… - Brain and …, 2018 - Elsevier
We report an 11-month-old boy with acetazolamide-responsive epileptic apnea and
inherited glycosylphosphatidylinositol (GPI)-anchor deficiency who presented with
decreased serum alkaline phosphatase associated with compound PIGT mutations. The
patient exhibited congenital anomalies, severe intellectual disability, and seizures, including
epileptic apnea with epileptiform discharges from bilateral temporal areas. Brain magnetic
resonance imaging revealed delayed myelination and progressive atrophy of the brainstem …
inherited glycosylphosphatidylinositol (GPI)-anchor deficiency who presented with
decreased serum alkaline phosphatase associated with compound PIGT mutations. The
patient exhibited congenital anomalies, severe intellectual disability, and seizures, including
epileptic apnea with epileptiform discharges from bilateral temporal areas. Brain magnetic
resonance imaging revealed delayed myelination and progressive atrophy of the brainstem …