Familial acanthocytosis with paroxysmal exertion-induced dyskinesias and epilepsy (FAPED)

“Neuroacanthocytosis” – Overdue for a Taxonomic Update

“…“Familial acanthocytosis with paroxysmal exertion-induced dyskinesias and epilepsy” [ 31 ] was later found to be caused by a GLUT1 mutation [ 32 ]; acanthocytes have additionally been reported in a variety of neurogenetic disorders, e.g. with mutations of ELAC2 [ 33 ] or in aceruloplasminemia [ 34 ].…”