Dataset Information

SCN1A variants associated with sudden infant death syndrome.

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.

SUBMITTER: Brownstein CA

PROVIDER: S-EPMC6453530 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature

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SCN1A variants associated with sudden infant death syndrome.

Brownstein Catherine A CA Goldstein Richard D RD Thompson Christopher H CH Haynes Robin L RL Giles Emma E Sheidley Beth B Bainbridge Matthew M Haas Elisabeth A EA Mena Othon J OJ Lucas Jonathan J Schaber Bethann B Holm Ingrid A IA George Alfred L AL Kinney Hannah C HC Poduri Annapurna H AH

Epilepsia 20180330 4

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 repr ...[more]

PMID: 29601086

Dataset Information

SCN1A variants associated with sudden infant death syndrome.

Publications

SCN1A variants associated with sudden infant death syndrome.

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