Document Detail


Inheritance of febrile seizures in sudden unexplained death in toddlers.
MedLine Citation:
PMID:  22490769     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Sudden unexplained death in toddlers has been associated with febrile seizures, family history of febrile seizures, and hippocampal anomalies. We investigated the mode of inheritance for febrile seizures in these families. A three-generation pedigree was obtained from families enrolled in the San Diego Sudden Unexplained Death in Childhood Research Project, involving toddlers with sudden unexplained death, febrile seizures, and family history of febrile seizures. In our six cases, death was unwitnessed and related to sleep. The interval from last witnessed febrile seizure to death ranged from 3 weeks to 6 months. Hippocampal abnormalities were identified in one of three cases with available autopsy sections. Autosomal dominant inheritance of febrile seizures was observed in three families. A fourth demonstrated autosomal dominant inheritance with incomplete penetrance or variable expressivity. In two families, the maternal and paternal sides manifested febrile seizures. In this series, the major pattern of inheritance in toddlers with sudden unexplained death and febrile seizures was autosomal dominant. Future studies should develop markers (including genetic) to identify which patients with febrile seizures are at risk for sudden unexplained death in childhood, and to provide guidance for families and physicians.
Authors:
Ingrid A Holm; Annapurna Poduri; Laura Crandall; Elisabeth Haas; Marjorie R Grafe; Hannah C Kinney; Henry F Krous
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Pediatric neurology     Volume:  46     ISSN:  1873-5150     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2012 Apr 
Date Detail:
Created Date:  2012-04-11     Completed Date:  2012-08-08     Revised Date:  2014-05-12    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  235-9     Citation Subset:  IM    
Copyright Information:
Copyright © 2012 Elsevier Inc. All rights reserved.
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MeSH Terms
Descriptor/Qualifier:
Autopsy
Child
Child, Preschool
Death, Sudden*
Female
Humans
Infant
Male
Pedigree*
Seizures, Febrile / genetics*,  pathology*
Grant Support
ID/Acronym/Agency:
K23 NS069784/NS/NINDS NIH HHS; K23 NS069784/NS/NINDS NIH HHS; P30 HD018655/HD/NICHD NIH HHS; P30 HD18655/HD/NICHD NIH HHS
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