Generalized epilepsy with febrile seizures plus-associated sodium channel beta 1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function

Two novel mutations (R85C and R85H) on the extracellular immunoglobulin-like domain of the sodium channel beta 1 subunit have been identified in individuals from two families with generalized epilepsy with febrile seizures plus (GEFS+). The functional consequences of these two mutations were determi...

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Veröffentlicht in:	Neuroscience 2007-08, Vol.148 (1), p.164-174
Hauptverfasser:	Xu, R, Thomas, E A, Gazina, E V, Richards, K L, Quick, M, Wallace, R H, Harkin, LA, Heron, SE, Berkovic, S F, Scheffer, I E, Mulley, J C, Petrou, S
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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