Fig. 1.

A Probands that were analysed by whole exome sequencing. The daughter (I) experienced complex focal epilepsy, whereas her father (II) presented with headaches, focal epilepsy, and right-sided hemiparesis. The boy (III) reported recurrent headaches. Brain MRI of his parents did not show any lesions. The girl (IV) presented with acute strabismus, facial nerve paralysis and headaches. Proband V presented with severe psychomotor retardation and paraplegia during early childhood. Proband VI has multiple cerebral and spinal CCMs resulting in paraplegia after intramedullary bleeding. The age of onset is given next to the probands in years. Axial (B-D) and coronal (E) MRI of proband I. T2- (B), FLAIR- (C), (GRE) T2*- (D), and T1-weighted (E) gadolinium-enhanced MRI of patient I who presented with seizures at 5 years of age. Arrowheads indicate the cavernous lesion. Wild-type (F) and mutant (G) sequences of the variant in FAM222B identified during WES in affected probands I and II.