@article{008f356f8d2a47f3b2fc8662fa428e13,
title = "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.",
keywords = "dentate gyrus, epilepsy, hippocampus, sodium channel, sudden unexpected death",
author = "Brownstein, {Catherine A.} and Goldstein, {Richard D.} and Thompson, {Christopher H.} and Haynes, {Robin L.} and Emma Giles and Beth Sheidley and Matthew Bainbridge and Haas, {Elisabeth A.} and Mena, {Othon J.} and Jonathan Lucas and Bethann Schaber and Holm, {Ingrid A.} and George, {Alfred L.} and Kinney, {Hannah C.} and Poduri, {Annapurna H.}",
note = "Funding Information: We thank the many families who have lost a child to SIDS and have participated in SIDS research; the coroners, medical examiners, and pathologists who helped in ensuring the evaluation of the forensic autopsy materials; Dr. David Paterson for his early work on the SIDS cohort; Jean-Marc DeKeyser for assistance with engineering sodium channel variant plasmids; Dr. Roya Dastjerdi, Ms. Kelly Journey, and Ms. Kalen Fletcher for administrative assistance; Dr. Calum MacRae and Alan Taylor, MS, CGC for thoughtful discussion; and Dr. Dawna D. Armstrong for critical reading of the manuscript. This study was supported by the Boston Children's Hospital Intellectual and Developmental Disabilities Research Center funded by the National Institutes of Health (NIH) P30 HD18655, NIH grant HL131914 (A.L.G.), Robert's Program on Sudden Unexpected Death in Pediatrics, Citizens United for Research in Epilepsy/Isaac Stone Foundation Award, and Departments of Pathology, Pediatrics, and Neurology at Boston Children's Hospital. Funding Information: NIH grant, Grant/Award Number: HL131914; Boston Children{\textquoteright}s Hospital Intellectual and Developmental Disabilities Research Center funded by National Institutes of Health, Grant/Award Number: P30 HD18655; Robert{\textquoteright}s Program on Sudden Unexpected Death in Pediatrics; Citizens United for Research in Epilepsy/ Isaac Stone Foundation Award; Departments of Pathology, Pediatrics, and Neurology at Boston Children{\textquoteright}s Hospital Funding Information: We thank the many families who have lost a child to SIDS and have participated in SIDS research; the coroners, medical examiners, and pathologists who helped in ensuring the evaluation of the forensic autopsy materials; Dr. David Paterson for his early work on the SIDS cohort; Jean-Marc DeKeyser for assistance with engineering sodium channel variant plasmids; Dr. Roya Dastjerdi, Ms. Kelly Journey, and Ms. Kalen Fletcher for administrative assistance; Dr. Calum MacRae and Alan Taylor, MS, CGC for thoughtful discussion; and Dr. Dawna D. Armstrong for critical reading of the manuscript. This study was supported by the Boston Children{\textquoteright}s Hospital Intellectual and Developmental Disabilities Research Center funded by the National Institutes of Health (NIH) P30 HD18655, NIH grant HL131914 (A.L.G.), Robert{\textquoteright}s Program on Sudden Unexpected Death in Pediatrics, Citizens United for Research in Epilepsy/ Isaac Stone Foundation Award, and Departments of Pathology, Pediatrics, and Neurology at Boston Children{\textquoteright}s Hospital. Publisher Copyright: Wiley Periodicals, Inc. {\textcopyright} 2018 International League Against Epilepsy",
year = "2018",
month = apr,
doi = "10.1111/epi.14055",
language = "English (US)",
volume = "59",
pages = "e56--e62",
journal = "Epilepsia",
issn = "0013-9580",
publisher = "Wiley-Blackwell",
number = "4",
}