SCN1A Mutation—Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis

J Ding, X Li, H Tian, L Wang, B Guo, Y Wang… - Frontiers in …, 2021 - frontiersin.org
Background: SCN1A is one of the most common epilepsy genes. About 80% of SCN1A
gene mutations cause Dravet syndrome (DS), which is a severe and catastrophic epileptic …

Forensic genetics and genomics: Much more than just a human affair

M Arenas, F Pereira, M Oliveira, N Pinto… - PLoS …, 2017 - journals.plos.org
While traditional forensic genetics has been oriented towards using human DNA in criminal
investigation and civil court cases, it currently presents a much wider application range …

Evidence base for 2022 updated recommendations for a safe infant sleeping environment to reduce the risk of sleep-related infant deaths

RY Moon, RF Carlin, I Hand… - …, 2022 - publications.aap.org
Every year in the United States, approximately 3500 infants die of sleep-related infant
deaths, including sudden infant death syndrome (SIDS)(International Statistical …

Reclassification of the etiology of infant mortality with whole-genome sequencing

MJ Owen, MS Wright, S Batalov, Y Kwon… - JAMA network …, 2023 - jamanetwork.com
Importance Understanding the causes of infant mortality shapes public health, surveillance,
and research investments. However, the association of single-locus (mendelian) genetic …

European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death

F Fellmann, CG Van El, P Charron, K Michaud… - European Journal of …, 2019 - nature.com
Sudden cardiac death (SCD) accounts for 10–20% of total mortality, ie, one in five
individuals will eventually die suddenly. Given the substantial genetic component of SCD in …

Causal genetic variants in stillbirth

KE Stanley, J Giordano, V Thorsten… - … England Journal of …, 2020 - Mass Medical Soc
Background In the majority of cases, the cause of stillbirth remains unknown despite detailed
clinical and laboratory evaluation. Approximately 10 to 20% of stillbirths are attributed to …

Cardiac genetic predisposition in sudden infant death syndrome

DJ Tester, LCH Wong, P Chanana, A Jaye… - Journal of the American …, 2018 - jacc.org
Background: Sudden infant death syndrome (SIDS) is a leading cause of postneonatal
mortality. Genetic heart diseases (GHDs) underlie some cases of SIDS. Objectives: This …

Yield of peripheral sodium channels gene screening in pure small fibre neuropathy

I Eijkenboom, M Sopacua, JGJ Hoeijmakers… - Journal of Neurology …, 2019 - jnnp.bmj.com
Background Neuropathic pain is common in peripheral neuropathy. Recent genetic studies
have linked pathogenic voltage-gated sodium channel (VGSC) variants to human pain …

[HTML][HTML] Sudden infant death syndrome: an overview

JR Duncan, RW Byard - 2018 - europepmc.org
The term sudden infant death syndrome (SIDS) was first proposed in 1969 in order to focus
attention on a subgroup of infants with similar clinical features whose deaths occurred …

Genetic determinants of sudden unexpected death in pediatrics

HY Koh, A Haghighi, C Keywan, S Alexandrescu… - Genetics in …, 2022 - Elsevier
Purpose This study aimed to evaluate genetic contributions to sudden unexpected death in
pediatrics (SUDP). Methods We phenotyped and performed exome sequencing for 352 …