| Literature DB >> 29601086 |
Catherine A Brownstein1,2,3, Richard D Goldstein1,3,4, Christopher H Thompson5, Robin L Haynes1,6, Emma Giles1,6, Beth Sheidley7, Matthew Bainbridge8, Elisabeth A Haas9, Othon J Mena10, Jonathan Lucas10, Bethann Schaber10, Ingrid A Holm1,2,3, Alfred L George5, Hannah C Kinney1,3,6, Annapurna H Poduri1,7,11,12.
Abstract
We identified SCN1A variants in 2 infants who died of sudden infant death syndrome (SIDS) with hippocampal abnormalities from an exome sequencing study of 10 cases of SIDS but no history of seizures. One harbored SCN1A G682V, and the other had 2 SCN1A variants in cis: L1296M and E1308D, a variant previously associated with epilepsy. Functional evaluation in a heterologous expression system demonstrated partial loss of function for both G682V and the compound variant L1296M/E1308D. Our cases represent a novel association between SCN1A and SIDS, extending the SCN1A spectrum from epilepsy to SIDS. Our findings provide insights into SIDS and support genetic evaluation focused on epilepsy genes in SIDS. Wiley Periodicals, Inc.Entities:
Keywords: dentate gyrus; epilepsy; hippocampus; sodium channel; sudden unexpected death
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Year: 2018 PMID： 29601086 PMCID： PMC6453530 DOI： 10.1111/epi.14055
Source DB: PubMed Journal: Epilepsia ISSN： 0013-9580 Impact factor: 5.864