West syndrome associated with 14q12 duplications harboring FOXG1

Abstract

West syndrome (WS) is characterized by infantile-onset flexor and extensor spasms, an EEG pattern of a high amplitude with asynchronous activity of spikes and theta/delta waves (hypsarrhythmia), and impaired psychomotor development.1 In about 70%–80% of the children, WS develops as a consequence of metabolic disorders or brain lesions, but in many cases the etiology is unknown.2 ### Methods. See also appendices e-1 (Methods) and e-2 (case descriptions) on the Neurology ® Web site at www.neurology.org. We screened by high-resolution comparative genomic hybridization (array-CGH) 38 (20 male, 18 female) consecutively collected patients with WS of unknown etiology (table e-1). Diagnosis was based on 1) absence of prenatal or postnatal etiologic factors, 2) normal development and absence of neurologic abnormalities before the onset, and 3) normal laboratory and MRI findings at onset.1 Patients showing dysmorphisms or other birth defects were excluded. Mutations in ARX and CDKL5 / STK9 genes2 were excluded in all the patients. The Ethics Committees of involved centers approved the study and an informed consent was signed by the parents. …