Concepedia

Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene

Baran Bayindir, Elena Piazza, Erika Della Mina, Ivan Limongelli, Francesca Brustia, Roberto Ciccone, Pierangelo Veggiotti, Orsetta Zuffardi, Mohammadreza Dehghani

European Journal of Medical Genetics · 2013 · 16 citations · 19 references

DOI

Concepts

References

19

De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy

Lieve Claes, Jurgen Del‐Favero, Berten Ceulemans et al. · The American Journal of Human Genetics · 2001 · 1.3K citations · Full text

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The spectrum of SCN1A-related infantile epileptic encephalopathies

Louise A. Harkin, Jacinta M. McMahon, Xenia Iona et al. · Brain · 2007 · 530 citations · Full text

, , +17

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

Johannes R. Lemke, Erik Riesch, Tim Scheurenbrand et al. · Epilepsia · 2012 · 324 citations · Full text

, , +16

Mapping the Wolf-Hirschhorn Syndrome Phenotype Outside the Currently Accepted WHS Critical Region and Defining a New Critical Region, WHSCR-2

Marcella Zollino, Rosetta Lecce, Rita Fischetto et al. · The American Journal of Human Genetics · 2003 · 270 citations · Full text

, , +7

Heterozygous Submicroscopic Inversions Involving Olfactory Receptor–Gene Clusters Mediate the Recurrent t(4;8)(p16;p23) Translocation

Sabrina Giglio, Vladimiro Calvari, Giuliana Gregato et al. · The American Journal of Human Genetics · 2002 · 267 citations · Full text

, , +7