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

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

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 wi...

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Veröffentlicht in:Epilepsy research 2014-11, Vol.108 (9), p.1511-1518
Hauptverfasser: 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: Artikel
Sprache:eng
Schlagworte:
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
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Beschreibung
Zusammenfassung: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.
ISSN:0920-1211
1872-6844
DOI:10.1016/j.eplepsyres.2014.08.020