The spectrum of intermediate SCN 8A ‐related epilepsy

Johannesen, Katrine M. and Gardella, Elena and Encinas, Alejandra C. and Lehesjoki, Anna‐Elina and Linnankivi, Tarja and Petersen, Michael B. and Lund, Ida C. B. and Blichfeldt, Susanne and Miranda, Maria J. and Pal, Deb K. and Lascelles, Karine and Procopis, Peter and Orsini, Alessandro and Bonuccelli, Alice and Giacomini, Thea and Helbig, Ingo and Fenger, Christina D. and Sisodiya, Sanjay M. and Hernandez‐Hernandez, Laura and Krithika, S. and Rumple, Melissa and Masnada, Silvia and Valente, Marialuisa and Cereda, Cristina and Giordano, Lucio and Accorsi, Patrizia and Bürki, Sarah E. and Mancardi, Margherita and Korff, Christian and Guerrini, Renzo and Spiczak, Sarah and Hoffman‐Zacharska, Dorota and Mazurczak, Tomasz and Coppola, Antonietta and Buono, Salvatore and Vecchi, Marilena and Hammer, Michael F. and Varesio, Costanza and Veggiotti, Pierangelo and Lal, Dennis and Brünger, Tobias and Zara, Federico and Striano, Pasquale and Rubboli, Guido and Møller, Rikke S. (2019) The spectrum of intermediate SCN 8A ‐related epilepsy. Epilepsia, 60 (5). pp. 830-844. ISSN 1528-1167

Full text not available from this repository.
Official URL: https://doi.org/10.1111/epi.14705

Abstract

Objective: Pathogenic variants in SCN 8A have been associated with a wide spectrum of epilepsy phenotypes, ranging from benign familial infantile seizures (BFIS ) to epileptic encephalopathies with variable severity. Furthermore, a few patients with intellectual disability (ID ) or movement disorders without epilepsy have been reported. The vast majority of the published SCN 8A patients suffer from severe developmental and epileptic encephalopathy (DEE ). In this study, we aimed to provide further insight on the spectrum of milder SCN 8A‐related epilepsies. Methods: A cohort of 1095 patients were screened using a next generation sequencing panel. Further patients were ascertained from a network of epilepsy genetics clinics. Patients with severe DEE and BFIS were excluded from the study. Results: We found 36 probands who presented with an SCN 8A‐related epilepsy and normal intellect (33%) or mild (61%) to moderate ID (6%). All patients presented with epilepsy between age 1.5 months and 7 years (mean = 13.6 months), and 58% of these became seizure‐free, two‐thirds on monotherapy. Neurological disturbances included ataxia (28%) and hypotonia (19%) as the most prominent features. Interictal electroencephalogram was normal in 41%. Several recurrent variants were observed, including Ile763Val, Val891Met, Gly1475Arg, Gly1483Lys, Phe1588Leu, Arg1617Gln, Ala1650Val/Thr, Arg1872Gln, and Asn1877Ser. Significance: With this study, we explore the electroclinical features of an intermediate SCN 8A‐related epilepsy with mild cognitive impairment, which is for the majority a treatable epilepsy.

Item Type: Journal Article
Keywords: epilepsy, epilepsy genetics, intellectual disability, SCN8A, voltage‐gated sodium channels
Faculty: Faculty of Science & Engineering
Depositing User: Lisa Blanshard
Date Deposited: 30 Jul 2020 14:09
Last Modified: 30 Jul 2020 14:20
URI: http://arro.anglia.ac.uk/id/eprint/705738

Actions (login required)

Edit Item Edit Item