NDLI: Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families.

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Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families.

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Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Brunklaus, Andreas Ellis, Rachael Stewart, Helen Aylett, Sarah Reavey, Eleanor Jefferson, Ros Jain, Rakesh Chakraborty, Supratik Jayawant, Sandeep Zuberi, Sameer M.
Description	Country affiliation: United kingdom Author Affiliation: Brunklaus A ( The Paediatric Neurosciences Research Group, Royal Hospital for Sick Children, Glasgow, UK); Ellis R ( The Paediatric Neurosciences Research Group, Royal Hospital for Sick Children, Glasgow, UK); Stewart H ( Department of Clinical Genetics, Oxford Radcliffe Hospitals NHS Trust, Oxford, UK.); Aylett S ( Developmental Neurosciences Programme at UCL-ICH, Great Ormond Street Hospital for Sick Children, London, UK.); Reavey E ( The Paediatric Neurosciences Research Group, Royal Hospital for Sick Children, Glasgow, UK); Jefferson R ( Royal Berkshire NHS Foundation Trust, Reading, UK.); Jain R ( Department of Paediatric Neurology, Children's Hospital, Oxford, UK.); Chakraborty S ( Coventry and Warwickshire Partnership NHS Trust, Coventry, UK.); Jayawant S ( Department of Paediatric Neurology, Children's Hospital, Oxford, UK.); Zuberi SM ( The Paediatric Neurosciences Research Group, Royal Hospital for Sick Children, Glasgow, UK)
Abstract	BACKGROUND: Mutations in the gene encoding the alpha subunit of the voltage-gated sodium channel SCN1A are associated with several epilepsy syndromes. These range from severe phenotypes including Dravet syndrome to milder phenotypes such as genetic epilepsy with febrile seizures plus (GEFS+). To date the sequence variants identified have been heterozygous in nature as one would expect for a disorder that occurs de novo or is dominantly inherited. METHODS AND RESULTS: We report the association of two novel homozygous missense mutations of the SCN1A gene in four children with infantile epilepsies from two consanguineous pedigrees. We suggest that the nature and location of the identified amino acid changes allows heterozygous carriers to remain unaffected. However, having such changes on both alleles may have a cumulative and detrimental effect. CONCLUSION: The presented cases illustrate how better understanding of the nature and location of SCN1A missense mutations may aid the interpretation of genotype-phenotype associations. SCN1A related epilepsies should be considered in children with infantile onset epilepsies even when an autosomal recessive neurological disorder is suspected.
File Format	HTM / HTML
ISSN	10903798
Issue Number	4
Volume Number	19
e-ISSN	15322130
Journal	European Journal of Paediatric Neurology
Language	English
Publisher	Elsevier
Publisher Date	2015-07-01
Publisher Place	Great Britain (UK)
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Neurology Discipline Pediatrics Epilepsies, Myoclonic Genetics Nav1.1 Voltage-gated Sodium Channel Seizures, Febrile Child Female Genetic Association Studies Genetic Variation Homozygote Humans Male Mutation, Missense Pedigree Phenotype Syndrome Case Reports Journal Article
Content Type	Text
Resource Type	Case study Article
Subject	Neurology (clinical) Pediatrics, Perinatology and Child Health

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