Coffin-Siris syndrome and epilepsy
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Coffin-Siris syndrome and epilepsy Maria Rosaria Curcio 1 & Silvia Ferranti 1
&
Federica Lotti 2 & Salvatore Grosso 1,2
Received: 14 March 2020 / Accepted: 26 September 2020 # Fondazione Società Italiana di Neurologia 2020
Abstract Coffin-Siris syndrome is a rare genetic disorder defined by the presence of particular facial traits, congenital malformations, intellectual disability, and speech impairment. Epilepsy in Coffin-Siris syndrome has only occasionally been reported, and its features are poorly defined. We provide a detailed description of the clinical and instrumental findings of three patients with Coffin-Siris syndrome and epilepsy. The clinical diagnosis in our patients was confirmed by molecular analysis, which identified the presence of de novo mutations of ARID1B and SMARCB1 genes, in two patients and one patient, respectively. All the patients presented with epilepsy, with a mean age of seizure onset of 5.5 years. Seizures were brief and had a focal onset with secondary generalization. Electroencephalographic recording documented a unilateral, and less commonly bilateral, paroxysmal activity in the temporal, parietal, and occipital regions. Clinical response to anticonvulsive therapy was satisfactory, with a low rate of seizure recurrence. Our case series contributes to delineate the phenotype of Coffin-Siris syndrome. We wish this report could pave the way for further studies that will better define the prevalence and clinical manifestations of epilepsy in this rare syndrome. Keywords Coffin-Siris . Epilepsy . Seizures . ARID1B . SMARCB1
Introduction Coffin-Siris syndrome (CSS) is a disorder related to mutations of genes coding for BAF subunits. Rearrangements involving these genes are also responsible for a spectrum of phenotypes including Nicolaides-Baraitser syndrome (NBS). These syndromes share common features like particular facial traits, congenital malformations, intellectual disability, language impairment, and behavioral abnormalities [1, 2]. Moreover, CSS is characterized by hypoplasia or aplasia of the fifth fingernails and hypoplasia of the terminal phalanges, whereas NBS is
The work described has not been published before and it is not under consideration for publication anywhere else. Its publication has been approved by all co-authors, as well as by the responsible authorities at the institute where the work has been carried out. * Silvia Ferranti [email protected] 1
Dipartimento di Medicina Molecolare e dello Sviluppo, Universita’ degli Studi di Siena, viale Bracci 16, 53100 Siena, Italy
2
U.O.C. Pediatria, Azienda Ospedaliera Universitaria Senese, viale Bracci 16, 53100 Siena, Italy
associated with broad distal phalanges, progressive hair thinning out, and face coarseness with growth [1]. Epilepsy in CSS has occasionally been reported and its features are poorly defined [2–5]. We provide a description of the clinical and instrumental findings of three patients with CSS and epilepsy.
Case report Patient 1 is a 7-year-old female with a p.Glu175
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