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Epileptic Disorders

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Epilepsy features in ARID1B-related Coffin-Siris syndrome Volume 23, numéro 6, December 2021

Illustrations


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Tableaux

Auteurs
1 U.O.C. di Neuropsichiatria Infantile, Dipartimento ad Attività Integrata Materno Infantile – AOUI di Verona, Verona, Italy
2 PhD program Applied Sciences of Life and Health, University of Verona, Verona, Italy
3 Pediatric Neurology and Muscolar Diseases Unit, IRCCS “G. Gaslini” Insitute, Genova, Italy
4 Department of Neurosciences, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy
5 IRCCS Istituto delle Scienze Neurologiche di Bologna, UO Neuropsichiatria dell’età Pediatrica, Bologna, Italy
6 UOC Neurofisiopatologia, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milano, Italy
7 Department of Clinical Neurophysiology, Filadelfia Epilepsy Hospital, Dianalund, Denmark
8 Department of Clinical Medicine, Zealand University Hospital, Roskilde, Denmark
9 U.O. di Neuropsichiatria Infantile, AOU di Parma, Parma, Italy
10 Child Neuropsychiatry, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy
11 PhD program Clinical and Experimental Medicine, University of Modena and Reggio Emilia, Modena, Italy
12 Centro Ricerca per le Epilessie in età Pediatrica (CREP), Azienda Ospedaliera Universitaria di Verona, Verona, Italy
* Correspondence: Gaetano Cantalupo University of Verona, AOUI Verona, P.le A. Stefani 1, 37126 Verona, Italy

Objective

Coffin-Siris syndrome (CSS) is a rare congenital malformation syndrome, caused by mutations in the ARID1B gene in over half of the cases. While the clinical characteristics of the syndrome have been increasingly described, a detailed evaluation of the epileptic phenotype in patients with ARID1B alterations and CSS has not been approached yet. We report seven patients with ARID1B-related CSS, focusing on epilepsy and its electroclinical features.

Methods

The evolution of epilepsy and EEG findings of children with CSS are described and compared with patients previously reported in the literature.

Results

The patients described here reveal common features, consistent with those of patients previously described in the literature.

Significance

The epilepsy phenotype of CSS due to ARID1B pathogenic variants may be described as focal epilepsy with seizures, variable in frequency, arising from motor areas, with onset in the first years of life and susceptibility to fever, and interictal perisylvian (centrotemporal) epileptiform abnormalities that are enhanced during sleep with possible evolution to an EEG pattern of continuous spike and wave during sleep (without documented developmental regression). Additional information emerging from other patients is needed to confirm this definition.