title: Neonatal suppression-burst without epileptic seizures: expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy.
abstract: Early-onset epileptic encephalopathies (EOEEs) are characterised by epileptic seizures beginning in the first months of life, abnormal background EEG activity, and are associated with severe developmental delay and poor prognosis. Mutations and deletions in the STXBP1 gene are associated with Ohtahara syndrome, also known as "early infantile epileptic encephalopathy". We report an infant affected by EOEE with a 9q34.11 deletion that encompassed the genes STXBP1 and SPTAN1. The infant presented with neonatal encephalopathy without epileptic seizures and an EEG pattern varying from highly discontinuous to suppression-burst. This was followed by West syndrome at 2 months with atypical hypsarrhythmia and spasms, easily controlled by therapy. Our findings suggest that molecular analysis of STXBP1 should be considered for newborns affected by neonatal encephalopathy associated with a peculiar EEG pattern, even in the absence of neonatal epileptic seizures.
authors.affiliation: Pediatric Neurology Unit, V Buzzi Children's Hospital, ICP, Milan, Italy. m.mastrangelo@icp.mi.it
authors.forename: Massimo
authors.initials: M
authors.lastname: Mastrangelo
authors.forename: Angela
authors.initials: A
authors.lastname: Peron
authors.forename: Luigina
authors.initials: L
authors.lastname: Spaccini
authors.forename: Francesca
authors.initials: F
authors.lastname: Novara
authors.forename: Barbara
authors.initials: B
authors.lastname: Scelsa
authors.forename: Paola
authors.initials: P
authors.lastname: Introvini
authors.forename: Federico
authors.initials: F
authors.lastname: Raviglione
authors.forename: Stefano
authors.initials: S
authors.lastname: Faiola
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D001921:Brain / Q000503:physiopathology*; D002899:Chromosomes, Human, Pair 9; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D051938:Munc18 Proteins / Q000235:genetics*; D013036:Spasms, Infantile / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology*; D016896:Treatment Outcome
chemical_list: D000927:Anticonvulsants; D051938:Munc18 Proteins; C497937:STXBP1 protein, human
keywords: EEG pattern; SPTAN1; STXBP1; hypsarrhythmia; neonatal encephalopathy; neonatal seizures