Johannesen, Katrine M., Gardena, Elena, Encinas, Alejandra C., Lehesjoki, Anna-Enna, Linnankivi, Tarja, Petersen, Michael B., Lund, Ida Charlotte Bay, Blichfeldt, Susanne, Miranda, Maria J., Pal, Deb K., Lascelles, Karine, Procopis, Peter, Orsini, Alessandro, Bonuccelli, Alice ORCID: 0000-0002-7457-2779, Giacomini, Thea ORCID: 0000-0002-7802-8789, Helbig, Ingo, Fenger, Christina D., Sisodiya, Sanjay M., Hernandez-Hernandez, Laura, Krithika, Sundararaman, Rumple, Melissa, Masnada, Silvia, Valente, Marialuisa, Cereda, Cristina, Giordano, Lucio, Accorsi, Patrizia, Burki, Sarah, Mancardi, Margherita, Korff, Christian, Guerrini, Renzo, von Spiczak, Sarah, Hoffman-Zacharska, Dorota, Mazurczak, Tomasz, Coppola, Antonietta, Buono, Salvatore, Vecchi, Marilena, Hammer, Michael F., Varesio, Costanza ORCID: 0000-0001-5645-021X, Veggiotti, Pierangelo, Lal, Dennis, Bruenger, Tobias, Zara, Federico, Striano, Pasquale ORCID: 0000-0002-6065-1476, Rohholi, Guido and Moller, Rikke S. (2019). The spectrum of intermediate SCN8A-related epilepsy. Epilepsia, 60 (5). S. 830 - 845. HOBOKEN: WILEY. ISSN 1528-1167

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Abstract

Objective: Pathogenic variants in SCN8A 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 SCN8A patients suffer from severe developmental and epileptic encephalopathy (DEE). In this study, we aimed to provide further insight on the spectrum of milder SCN8A-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 SCN8A-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 SCN8A-related epilepsy with mild cognitive impairment, which is for the majority a treatable epilepsy.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Johannesen, Katrine M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gardena, ElenaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Encinas, Alejandra C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lehesjoki, Anna-EnnaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Linnankivi, TarjaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Petersen, Michael B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lund, Ida Charlotte BayUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Blichfeldt, SusanneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Miranda, Maria J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pal, Deb K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lascelles, KarineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Procopis, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Orsini, AlessandroUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bonuccelli, AliceUNSPECIFIEDorcid.org/0000-0002-7457-2779UNSPECIFIED
Giacomini, TheaUNSPECIFIEDorcid.org/0000-0002-7802-8789UNSPECIFIED
Helbig, IngoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fenger, Christina D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sisodiya, Sanjay M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hernandez-Hernandez, LauraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Krithika, SundararamanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rumple, MelissaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Masnada, SilviaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Valente, MarialuisaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cereda, CristinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Giordano, LucioUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Accorsi, PatriziaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Burki, SarahUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mancardi, MargheritaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Korff, ChristianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Guerrini, RenzoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
von Spiczak, SarahUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hoffman-Zacharska, DorotaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mazurczak, TomaszUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Coppola, AntoniettaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Buono, SalvatoreUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vecchi, MarilenaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hammer, Michael F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Varesio, CostanzaUNSPECIFIEDorcid.org/0000-0001-5645-021XUNSPECIFIED
Veggiotti, PierangeloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lal, DennisUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bruenger, TobiasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zara, FedericoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Striano, PasqualeUNSPECIFIEDorcid.org/0000-0002-6065-1476UNSPECIFIED
Rohholi, GuidoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Moller, Rikke S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-148733
DOI: 10.1111/epi.14705
Journal or Publication Title: Epilepsia
Volume: 60
Number: 5
Page Range: S. 830 - 845
Date: 2019
Publisher: WILEY
Place of Publication: HOBOKEN
ISSN: 1528-1167
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
SODIUM-CHANNEL SCN8A; DE-NOVO; PHENOTYPIC SPECTRUM; PURKINJE NEURONS; MUTATIONS; ENCEPHALOPATHY; NA(V)1.6; PATIENT; FAMILYMultiple languages
Clinical NeurologyMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/14873

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