ParentalSCN1Amutation mosaicism in familial Dravet syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2009.01208.x/fullpdf
Reference24 articles.
1. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy;Claes;Am J Hum Genet,2001
2. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2;Escayg;Nat Genet,2000
3. Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine;Dichgans;Lancet,2005
4. Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3;Gargus;Pediatr Neurol,2007
5. The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies.;Vanmolkot;Hum Mutat,2007
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