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Summary Expression Phenotypes Gene Literature (22) GO Terms (2) Nucleotides (95) Proteins (34) Interactants (63) Wiki
XB--978018

Papers associated with scn1a (and OMIM)



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A novel GABAergic dysfunction in human Dravet syndrome., Ruffolo G, Cifelli P, Roseti C, Thom M, van Vliet EA, Limatola C, Aronica E, Palma E., Epilepsia. November 1, 2018; 59 (11): 2106-2117.


A functional null mutation of SCN1B in a patient with Dravet syndrome., Patino GA, Claes LR, Lopez-Santiago LF, Slat EA, Dondeti RS, Chen C, O'Malley HA, Gray CB, Miyazaki H, Nukina N, Oyama F, De Jonghe P, Isom LL., J Neurosci. August 26, 2009; 29 (34): 10764-78.


Mutations linked to generalized epilepsy in humans reduce GABA(A) receptor current., Macdonald RL, Bianchi MT, Bianch MT, Feng H., Exp Neurol. November 1, 2003; 184 Suppl 1 S58-67.

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