Journal
JOURNAL OF CHILD NEUROLOGY
Volume 29, Issue 12, Pages NP202-NP206Publisher
SAGE PUBLICATIONS INC
DOI: 10.1177/0883073813511300
Keywords
SCN8A; epileptic encephalopathy; exome sequencing
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Funding
- Targeted Financing from the Estonian Ministry of Education and Research [SF0180142s08, TARLA 2695]
- EuroEPINOMICS [SARLA 11091E]
- University of Tartu [SP1GVARENG]
- European Regional Development Fund [3.2.0304.11-0312]
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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.
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