Late-onset cluster seizures and intellectual disability associated with a novel truncation variant in SMC1A .

Autor:	Elwan M; Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, United Kingdom., Fowkes R; Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, United Kingdom., Lewis-Smith D; Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, United Kingdom.; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne NE2 4HH, United Kingdom., Winder A; Department of Clinical Neurophysiology, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, United Kingdom., Baker MR; Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, United Kingdom.; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne NE2 4HH, United Kingdom.; Department of Clinical Neurophysiology, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, United Kingdom., Thomas RH; Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, United Kingdom.; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne NE2 4HH, United Kingdom.; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne NE2 4HH, United Kingdom.
Jazyk:	angličtina
Zdroj:	Epilepsy & behavior reports [Epilepsy Behav Rep] 2022 Jun 02; Vol. 19, pp. 100556. Date of Electronic Publication: 2022 Jun 02 (Print Publication: 2022).
DOI:	10.1016/j.ebr.2022.100556
Abstrakt:	SMC1A variants are known to cause Cornelia de Lange Syndrome (CdLS) which encompasses a clinical spectrum of intellectual disability, dysmorphic features (long or thick eyebrows, a hypomorphic philtrum and small nose) and, in some cases, epilepsy. More recently, SMC1A truncating variants have been described as the cause of a neurodevelopmental disorder with early-childhood onset drug-resistant epilepsy with seizures that occur in clusters, similar to that seen in PCDH19 -related epilepsy, but without the classical features of CdLS. Here, we report the case of a 28-year-old woman with a de novo heterozygous truncating variant in SMC1A who unusually presented with seizures at the late age of 12 years and had normal development into adulthood. Competing Interests: The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: R.H.T. reports Honoraria from Arvelle, Bial, Eisai, GW Pharma, Sanofi, UCB Pharma, UNEEG and Zogenix. R.F., M.E., D.L.-S., A.W., and M.R.B. have nothing to declare. (© 2022 The Authors.)
Databáze:	MEDLINE
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