Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy

• Published in: Epilepsy research Vol. 108; no. 9; pp. 1511 - 1518
• Main Authors: de Kovel, Carolien G.F, Meisler, Miriam H, Brilstra, Eva H, van Berkestijn, Frederique M.C, Slot, Ruben van ‘t, van Lieshout, Stef, Nijman, Isaac J, O’Brien, Janelle E, Hammer, Michael F, Estacion, Mark, Waxman, Stephen G, Dib-Hajj, Sulayman D, Koeleman, Bobby P.C
• Format: Journal Article
• Language: English
• Published: Kidlington Elsevier B.V 01.11.2014; Elsevier
• Subjects: Arginine - genetics; Biological and medical sciences; Child, Preschool; Epilepsy - complications; Epilepsy - genetics; Epileptic encephalopathy; Exome sequencing; Female; Glycine - genetics; Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy; HEK293 Cells; Humans; Medical sciences; Membrane Potentials - genetics; Microcephaly - complications; Microcephaly - genetics; Mutation - genetics; Nav1.6; NAV1.6 Voltage-Gated Sodium Channel - genetics; Nervous system (semeiology, syndromes); Neurology; Patch-clamp; Patch-Clamp Techniques; SCN8A; Temperature; Transfection; Nav1.6; Epileptic encephalopathy; Patch-clamp; SCN8A; Exome sequencing; Human; Nervous system diseases; Nucleotide sequence; Epilepsy; De novo; Cerebral disorder; Encephalopathy; Central nervous system disease; Mutation
• ISSN: 0920-1211; 1872-6844
• DOI: 10.1016/j.eplepsyres.2014.08.020

Highlights • Second functional characterization of SCN8A mutation in epileptic encephalopathy. • Channel functioning was investigated in neuronal cells. • Protein stability was investigated after correction for transcript abundance. • Functional effects of this mutation only partially overlapping with previously described mutation. • Raises discussion about functional mechanism of sodium channels in epileptic encephalopathy.