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Case Reports
. 2014 Dec;29(12):NP202-6.
doi: 10.1177/0883073813511300. Epub 2013 Dec 18.

De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders

Ulvi Vaher  1 , Margit Nõukas  2 , Tiit Nikopensius  2 , Mart Kals  3 , Tarmo Annilo  2 , Mari Nelis  3 , Katrin Ounap  4 , Tiia Reimand  5 , Inga Talvik  6 , Pilvi Ilves  7 , Andres Piirsoo  8 , Enn Seppet  9 , Andres Metspalu  2 , Tiina Talvik  6
Affiliations
Case Reports

De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders

Ulvi Vaher et al. J Child Neurol. 2014 Dec.

Abstract

Epileptic encephalopathies represent a clinically and genetically heterogeneous group of disorders, majority of which are of unknown etiology. We used whole-exome sequencing of a parent-offspring trio to identify the cause of early infantile epileptic encephalopathy in a boy with neonatal seizures, movement disorders, and multiple congenital anomalies who died at the age of 17 months because of respiratory illness and identified a de novo heterozygous missense mutation (c.3979A>G; p.Ile1327Val) in SCN8A (voltage-gated sodium-channel type VIII alpha subunit) gene. The variant was confirmed in the proband with Sanger sequencing. Because the clinical phenotype associated with SCN8A mutations has previously been identified only in a few patients with or without epileptic seizures, these data together with our results suggest that mutations in SCN8A can lead to early infantile epileptic encephalopathy with a broad phenotypic spectrum. Additional investigations will be worthwhile to determine the prevalence and contribution of SCN8A mutations to epileptic encephalopathies.

Keywords: SCN8A; epileptic encephalopathy; exome sequencing.

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