Rubinstein lab

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1. Fadila, S., Krivoshein, G., Majadly, H., Mavashov, A., Ranen, S., Brusel, M., Dopeso-Reyes, I.G., Beucher, B., Kremer, E.J., Tolner, E.A., Rubinstein, M. (2026). Disrupted temperature-sleep coupling mechanism in a Dravet syndrome mouse model. Nat. Commun. 17:3232.
   doi: 10.1038/s41467-026-69957-1

2. Mavashov, A., Turk, S., Sarusi, Y., Brusel, M., Ben Tov Perry, R., Quinn, S., Almog, Y., Vilian, K., Yam, M., Ulitsky, I., Rubinstein, M. (2026). Behavioral and epileptic phenotypes in a CHD2-related developmental delay model. Epilepsia. 67:2022–2034.
   doi: 10.1002/epi.70073

3. Yam, M., Nassir, J., Galber, D., Quinn, S., Gal, R., Ovadia, M., Bordeynik-Cohen, M.,  Peled, E., Makinson, C.D., Hausman Kedem, M., Fattal-Valevski, A., Frankel, W.N., Avraham, K.B., Rubinstein, M. (2026). A Mouse model of GRIN2D developmental and epileptic encephalopathy recapitulates the human disease. Brain. 149:90–104.
   doi: 10.1093/brain/awaf149

4. Teoh, J., Simko, J., Camp, C.R., Liu, C.J., Wang, W., Williams, D., Ma, L., Soundararajan, D., Martin, C., Taylor, N.K., François, E., Petri, S., Kanber, A., Ravichandra, A., Pero, M.E., Bartolini, F., Swayne, T.C., Lutz, C.M., Zuberi, A., Rubinstein, M., Hausman Kedem, M., Yuan, H., Gelinas, J.N., Sands, T.T., Harper, S.Q., Traynelis, S.F., Makinson, C.D., Frankel, W.N. (2025). Synaptic dysregulation in a mouse model of GRIN2D developmental and epileptic encephalopathy. Brain. 148:3973–3988.
   doi: 10.1093/brain/awaf125

5. Quinn, S., Zhang, N., Fenton, T.A., Brusel, M., Muruganandam, P., Peleg, Y., Giladi, M., Haitin, Y., Lerche, H., Bassan, H., Liu, Y., Ben-Shalom, R., Rubinstein, M. (2024). Complex biophysical changes and reduced neuronal firing in an SCN8A variant associated with developmental delay and epilepsy. Biochim Biophys Acta Mol Basis Dis. 1870:167127.
   doi: 10.1016/j.bbadis.2024.167127

6. Ricobaraza, A., Bunuales, M., Gonzalez-Aparicio, M., Fadila, S., Rubinstein, M., Vides-Urrestarazu, I., Banderas, J., Sola-Sevilla, N., Sanchez-Carpintero, R., Luis Lanciego, L., Roda, E., Honrubia, A., Arnaiz, P., Hernandez-Alcoceba, R. (2023). Preferential expression of SCN1A in GABAergic neurons improves survival and epileptic phenotype in a mouse model of Dravet syndrome. J Mol Med. 101:1587–1601.
   doi: 10.1007/s00109-023-02383-8

7. Fadila, S., Beucher, B., González-Dopeso Reyes, I., Mavashov, A., Brusel, M., Anderson, K., Ismeurt, C., Goldberg, E.M., Ricobaraza, A., Hernandez-Alcoceba, R., Kremer, E.J., Rubinstein, M. (2023). Viral vector-mediated expression of NaV1.1, after seizure onset, reduces epilepsy in mice with Dravet syndrome. J Clin Invest. 133:e159316.
   doi: 10.1172/JCI159316

8. Mavashov, A., Brusel, M., Liu, J., Woytowicz, V., Bae, H., Chen, Y.H., Dani, V.S., Cardenal-Muñoz, E., Spinosa, V., Aibar, J.Á., Rubinstein, M. (2023). Heat-induced seizures, premature mortality, and hyperactivity in a novel Scn1a nonsense model for Dravet syndrome. Front Cell Neurosci. 17:1149391.
   doi: 10.3389/fncel.2023.1149391

9. Quinn, S., Brusel, M., Ovadia, M., Rubinstein, M. (2023). Acute effect of antiseizure drugs on background oscillations in Scn1aA1783V Dravet syndrome mouse model. Front Pharmacol. 14:1118216.
   doi: 10.3389/fphar.2023.1118216

10. Almog, Y., Mavashov, A., Brusel, M., Rubinstein, M. (2022). Functional investigation of a neuronal microcircuit in the CA1 area of the hippocampus reveals synaptic dysfunction in Dravet syndrome mice. Front Mol Neurosci. 15:823640.
    doi: 10.3389/fnmol.2022.823640

11. Karmon, G., Sragovich, S., Hacohen-Kleiman, G., Ben-Horin-Hazak, I., Kasparek, P., Schuster, B., Sedlacek, R., Pasmanik-Chor, M., Theotokis, P., Touloumi, O., Zoidou, S., Huang, L., Wu, P.Y., Shi, R., Kapitansky, O., Lobyntseva, A., Giladi, E., Shapira, G., Shomron, N., Bereswill, S., Heimesaat, M.M., Grigoriadis, N., McKinney, R.A., Rubinstein, M., Gozes, I. (2022). Novel ADNP syndrome mice reveal dramatic sex-specific peripheral gene expression with brain synaptic and Tau pathologies. Biol Psychiatry 92:81–95.
    doi: 10.1016/j.biopsych.2021.09.018

12. Mora-Jimenez, L., Valencia, M., Sanchez-Carpintero, R., Tønnesen, J., Fadila, S., Rubinstein, M., Gonzalez-Aparicio, M., Bunuales, M., Fernandez-Pierola, E., Nicolas, M.J., Puerta, E., Miguelez, C., Minguez, P.G., Lumbreras, S., Gonzalez-Aseguinolaza, G., Ricobaraza, A., Hernandez-Alcoceba, R. (2021). Transfer of SCN1A to the brain of adolescent mouse model of Dravet syndrome improves epileptic, motor, and behavioral manifestations. Mol Ther Nucleic Acids. 25:585–602.
    doi: 10.1016/j.omtn.2021.08.003

13. Rabinski, T., Sagiv, S.T., Hausman-Kedem, M., Fattal-Valevski, A., Rubinstein, M., Avraham, K.B., Vatine, G.D. (2021). Reprogramming of two induced pluripotent stem cell lines from a heterozygous GRIN2D developmental and epileptic encephalopathy (DEE) patient (BGUi011-A) and from a healthy family relative (BGUi012-A). Stem Cell Res. 51:102178.
    doi: 10.1016/j.scr.2021.102178

14. Almog, Y., Fadila, S., Brusel, M., Mavashov, A., Anderson, K.L., Rubinstein, M. (2021). Developmental alterations in firing properties of hippocampal CA1 inhibitory and excitatory neurons in a mouse model of Dravet syndrome. Neurobiol Dis. 148:105209.
    doi: 10.1016/j.nbd.2020.105209

15. Fadila, S., Quinn, S., Turchetti Maia, A., Yakubovich, D., Ovadia, M., Anderson, K., Giladi, M., Rubinstein, M. (2020). Convulsive seizures and some behavioral comorbidities are uncoupled in the Scn1aA1783V Dravet syndrome mouse model. Epilepsia. 61:2289–2300.
    doi: 10.1111/epi.16662

16. Nadar-Ponniah, P.T., Taiber, S., Caspi, M., Koffler-Brill, T., Dror, A.A., Siman-Tov, R., Rubinstein, M., Padmanabhan, K., Luxenburg, C., Lang, R.A., Avraham, K.B., Rosin-Arbesfeld, R. (2020). Striatin is required for hearing and affects inner hair cells and ribbon synapses. Front Cell Dev Biol. 8:615.
    doi: 10.3389/fcell.2020.00615 

17. Styr, B., Gonen, N., Zarhin, D., Ruggiero, A., Atsmon, R., Gazit, N., Braun, G., Frere, S., Vertkin, I., Shapira, I., Harel, M., Heim, L.R., Katsenelson, M., Rechnitz, O., Fadila, S., Derdikman, D., Rubinstein, M., Geiger, T., Ruppin, E., Slutsky, I. (2019). Mitochondrial regulation of the hippocampal firing rate set point and seizure susceptibility. Neuron. 102:1009–1024.
    doi: 10.1016/j.neuron.2019.03.045

18. Nissenkorn, A., Almog, Y., Adler, I., Safrin, M., Brusel, M., Marom, M., Bercovich, S., Yakubovich, D., Tzadok, M., Ben-Zeev, B., Rubinstein, M. (2019). In vivo, in vitro and in silico correlations of four de novo SCN1A missense mutations. PLoS One. 14:e0211901.
    doi: 10.1371/journal.pone.0211901

19. Rubinstein, M., Patowary, A., Stanaway, I.B., McCord, E., Nesbitt, R.R., Archer, M., Scheuer, T., Nickerson, D., Raskind, W.H., Wijsman, E.M., Bernier, R., Catterall, W.A., Brkanac, Z. (2018). Association of rare missense variants in the second intracellular loop of NaV1.7 sodium channels with familial autism. Mol Psychiatry. 23:231–239.
    doi: 10.1038/mp.2016.222

20. Dascal, N., Rubinstein, M. (2017). Lithium reduces the span of G protein-activated K+ (GIRK) channels inhibition in hippocampal neurons. Bipolar Disord. 19:568–574.
    doi: 10.1111/bdi.12536

21. Yakubovich, D., Berlin, S., Kahanovitch, U., Rubinstein, M., Farhy-Tselnicker, I., Styr, B., Keren-Raifman, T., Dessauer, C.W., Dascal, N. (2015). A quantitative model of the GIRK1/2 channel reveals that its basal and evoked activities are controlled by unequal stoichiometry of Gα and Gβγ. PLoS Comput Biol. 11:e1004598.
    doi: 10.1371/journal.pcbi.1004598

22. Rubinstein, M., Han, S., Tai, C., Westenbroek, R.E., Hunker, A., Scheuer, T., Catterall, W.A. (2015). Dissecting the phenotypes of Dravet syndrome by gene deletion. Brain. 138:2219–2233.
    doi: 10.1093/brain/awv142

23. Rubinstein, M., Westenbroek, R.E., Yu, F.H., Jones, C.J., Scheuer, T., Catterall, W.A. (2015). Genetic background modulates impaired excitability of inhibitory neurons in a mouse model of Dravet syndrome. Neurobiol Dis. 73:106–117.
    doi: 10.1016/j.nbd.2014.09.017

24. Baek, J.H., Rubinstein, M., Scheuer, T., Trimmer, J.S. (2014). Reciprocal changes in phosphorylation and methylation of mammalian brain sodium channels in response to seizures. J Biol Chem. 289:15363–15373.
    doi: 10.1074/jbc.M114.562785

25. Kahanovitch, U., Tsemakhovich, V., Berlin, S., Rubinstein, M., Styr, B., Castel, R., Peleg, S., Tabak, G., Dessauer, C.W., Ivanina, T., Dascal, N. (2014). Recruitment of Gβγ controls the basal activity of G-protein coupled inwardly rectifying potassium (GIRK) channels: crucial role of distal C terminus of GIRK1. J Physiol. 592:5373–5390.
    doi: 10.1113/jphysiol.2014.283218

26. Berlin, S., Keren-Raifman, T., Castel, R., Rubinstein, M., Dessauer, C.W., Ivanina, T., Dascal, N. (2010). Gαi and Gβγ jointly regulate the conformations of a Gβγ effector, the neuronal G protein-activated K+ channel (GIRK). J Biol Chem. 285:6179–6185.
    doi: 10.1074/jbc.M109.085944

27. Rubinstein, M., Peleg, S., Berlin, S., Brass, D., Keren-Raifman, T., Dessauer, C.W., Ivanina, T., Dascal, N. (2009). Divergent regulation of GIRK1 and GIRK2 subunits of the neuronal G protein gated K+ channel by GαiGDP and Gβγ. J Physiol. 587:3473–3491.
    doi: 10.1113/jphysiol.2009.173229

28. Rubinstein, M., Peleg, S., Berlin, S., Brass, D., Dascal, N. (2007). Gαi3 primes the G protein-activated K+ channels for activation by coexpressed Gβγ in intact Xenopus oocytes. J Physiol. 581:17–32.
    doi: 10.1113/jphysiol.2006.125864

29. Werner, H., Idelman, G., Rubinstein, M., Pattee, P., Nagalla, S.R., Roberts, C.T., Jr. (2007). A novel EWS-WT1 gene fusion product in desmoplastic small round cell tumor is a potent transactivator of the insulin-like growth factor-I receptor (IGF-IR) gene. Cancer Lett. 247:84–90.
    doi: 10.1016/j.canlet.2006.03.027

30. Rubinstein, M., Idelman, G., Plymate, S.R., Narla, G., Friedman, S.L., Werner, H. (2004). Transcriptional activation of the insulin-like growth factor I receptor gene by the Kruppel-like factor 6 (KLF6) tumor suppressor protein: potential interactions between KLF6 and p53. Endocrinology. 145:3769–3777.
    doi: 10.1210/en.2004-0173