Article
SCN1A-related epilepsy with recessive inheritance: Two further families.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jul 2021
Moretti Raffaella, Arnaud Lionel, Bouteiller Delphine, Trouillard Oriane, Moreau Patricia, Buratti Julien, Rastetter Agnès, Keren Boris, Des Portes Vincent, Toulouse Joseph, Gourfinkel-An Isabelle, Leguern Eric, Depienne Christel, Mignot Cyril, Nava Caroline
Abstract excerpt
BACKGROUND: Variants in SCN1A gene, encoding the voltage-gated sodium channel Nav1.1, are associated with distinct epilepsy syndromes ranging from the relatively benign genetic epilepsy with febrile seizures plus (GEFS+) to Dravet syndrome, a severe developmental and epileptic encephalopathy (DEE). Most SCN1A pathogenic variants are heterozygous changes inherited in a dominant or de novo inheritance and many...
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