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Summary Expression Phenotypes Gene Literature (35) GO Terms (45) Nucleotides (77) Proteins (39) Interactants (158) Wiki
XB--6447551

Papers associated with scn2a (and Disease Ontology)



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Autism gene variants disrupt enteric neuron migration and cause gastrointestinal dysmotility., McCluskey KE, Stovell KM, Law K, Kostyanovskaya E, Schmidt JD, Exner CRT, Dea J, Brimble E, State MW, Willsey AJ, Willsey HR., Nat Commun. March 6, 2025; 16 (1): 2238.   


A convergent molecular network underlying autism and congenital heart disease., Rosenthal SB, Willsey HR, Xu Y, Xu Y, Mei Y, Dea J, Wang S, Curtis C, Sempou E, Khokha MK, Chi NC, Willsey AJ, Fisch KM, Ideker T., Cell Syst. August 17, 2021; 12 (11): 1094-1107.e6.   


Parallel in vivo analysis of large-effect autism genes implicates cortical neurogenesis and estrogen in risk and resilience., Willsey HR, Exner CRT, Xu Y, Xu Y, Everitt A, Sun N, Wang B, Dea J, Schmunk G, Zaltsman Y, Teerikorpi N, Kim A, Anderson AS, Shin D, Seyler M, Nowakowski TJ, Harland RM, Willsey AJ, State MW., Neuron. March 3, 2021; 109 (5): 788-804.e8.

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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