Article
Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jul 2015
Brunklaus Andreas, Ellis Rachael, Stewart Helen, Aylett Sarah, Reavey Eleanor, Jefferson Ros, Jain Rakesh, Chakraborty Supratik, Jayawant Sandeep, Zuberi Sameer M
Abstract excerpt
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...
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