Article
SCN1A variants associated with sudden infant death syndrome.
Epilepsia - 1 Apr 2018
Brownstein Catherine A, Goldstein Richard D, Thompson Christopher H, Haynes Robin L, Giles Emma, Sheidley Beth, Bainbridge Matthew, Haas Elisabeth A, Mena Othon J, Lucas Jonathan, Schaber Bethann, Holm Ingrid A, George Alfred L, Kinney Hannah C, Poduri Annapurna H
Abstract excerpt
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...
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