title: Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.
abstract: Seizures are rarely reported in Williams-Beuren syndrome (WBS)--a contiguous-gene-deletion disorder caused by a 7q11.23 heterozygous deletion of 1.5-1.8 Mb--and no previous study evaluated electro-clinical features of epilepsy in this syndrome. Furthermore, it has been hypothesized that atypical deletion (e.g., larger than 1.8 Mb) may be responsible for a more pronounced neurological phenotypes, especially including seizures. Our objectives are to describe the electro-clinical features in WBS and to correlate the epileptic phenotype with deletion of the 7q11.23 critical region. We evaluate the electro-clinical features in one case of distal 7q11.23 deletion syndrome and in eight epileptic WBS (eWBS) patients. Additionally, we compare the deletion size-and deleted genes-of four epileptic WBS (eWBS) with that of four non-epileptic WBS (neWBS) patients. Infantile spasms, focal (e.g., motor and dyscognitive with autonomic features) and generalized (e.g., tonic-clonic, tonic, clonic, myoclonic) seizures were encountered. Drug-resistance was observed in one patient. Neuroimaging discovered one case of focal cortical dysplasia, one case of fronto-temporal cortical atrophy and one case of periventricular nodular heterotopia. Comparison of deletion size between eWBS and neWBS patients did not reveal candidate genes potentially underlying epilepsy. This is the largest series describing electro-clinical features of epilepsy in WBS. In WBS, epilepsy should be considered both in case of typical and atypical deletions, which do not involve HIP1, YWHAG or MAGI2.
authors.affiliation: Child Neurology Division, Department of Pediatrics, Umberto I Hospital, Sapienza University, Roma, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Nicita
authors.affiliation: Child Neurology Division, Department of Pediatrics, Umberto I Hospital, Sapienza University, Roma, Italy.
authors.forename: Giacomo
authors.initials: G
authors.lastname: Garone
authors.affiliation: Child Neurology Division, Department of Pediatrics, Umberto I Hospital, Sapienza University, Roma, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Spalice
authors.affiliation: Department of Pediatrics, University of Pavia, IRCCS Policlinico San Matteo, Pavia, Italy.
authors.forename: Salvatore
authors.initials: S
authors.lastname: Savasta
authors.affiliation: Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 'G. Gaslini' Institute, Italy.
authors.forename: Pasquale
authors.initials: P
authors.lastname: Striano
authors.affiliation: Department of Pediatric Neuroscience, Foundation I.R.C.C.S. Neurological Institute "C. Besta", Milan, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Pantaleoni
authors.affiliation: Department of Pediatrics, University of Pavia, IRCCS Policlinico San Matteo, Pavia, Italy.
authors.forename: Maria Valentina
authors.initials: MV
authors.lastname: Spartà
authors.affiliation: Sch, ö, n Klinik Vogtareuth, Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, Vogtareuth, Germany.
authors.forename: Gerhard
authors.initials: G
authors.lastname: Kluger
authors.affiliation: Epilepsy Center, Department of Child Neuropsychiatry, C Poma Hospital, Mantova, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Capovilla
authors.affiliation: Epilepsy Unit, Child Neuropsychiatry Department, University Hospital, Cagliari, Italy.
authors.forename: Dario
authors.initials: D
authors.lastname: Pruna
authors.affiliation: Department of Pediatric Neuroscience, Foundation I.R.C.C.S. Neurological Institute "C. Besta", Milan, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Freri
authors.affiliation: Department of Pediatric Neuroscience, Foundation I.R.C.C.S. Neurological Institute "C. Besta", Milan, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: D'Arrigo
authors.affiliation: Department of Pediatrics, University of Perugia, Perugia, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Verrotti
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D004827:Epilepsy / Q000209:etiology* / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D018980:Williams Syndrome / Q000150:complications / Q000235:genetics* / Q000473:pathology; D055815:Young Adult
keywords: EEG; HIP1; distal 7q11.23 deletion syndrome; elastin; seizures