Article
Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.
Epilepsia - 1 Mar 2018
de Lange Iris M, Koudijs Marco J, van 't Slot Ruben, Gunning Boudewijn, Sonsma Anja C M, van Gemert Lisette J J M, Mulder Flip, Carbo Ellen C, van Kempen Marjan J A, Verbeek Nienke E, Nijman Isaac J, Ernst Robert F, Savelberg Sanne M C, Knoers Nine V A M, Brilstra Eva H, Koeleman Bobby P C
Abstract excerpt
OBJECTIVE: Phenotypes caused by de novo SCN1A pathogenic variants are very variable, ranging from severely affected patients with Dravet syndrome to much milder genetic epilepsy febrile seizures plus cases. The most important determinant of disease severity is the type of variant, with variants that cause a complete loss of function of the SCN1A protein (α-subunit of the neuronal sodium channel Nav1.1) being...
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