“Virtual patch clamp analysis” for predicting the functional significance of pathogenic variants in sodium channels

Autor: Bielopolski, N., Heyman, E., Bassan, H., BenZeev, B., Tzadok, M., Ginsberg, M., Blumkin, L., Michaeli, Y., Sokol, R., Yosha-Orpaz, N., Hady-Cohen, R., Banne, E., Lev, D., Lerman-Sagie, T., Wald-Altman, S., Nissenkorn, A.

Publikováno v: In Epilepsy Research October 2022 186

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Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

Autor: Hemati, P, Revah-Politi, A, Bassan, H, Petrovski, S, Bilancia, CG, Ramsey, K, Griffin, NG, Bier, L, Cho, MT, Rosello, M, Lynch, SA, Colombo, S, Weber, A, Haug, M, Heinzen, EL, Sands, TT, Narayanan, V, Primiano, M, Aggarwal, VS, Millan, F, Sattler-Holtrop, SG, Caro-Llopis, A, Pillar, N, Baker, J, Freedman, R, Kroes, HY, Sacharow, S, Stong, N, Lapunzina, P, Schneider, MC, Mendelsohn, NJ, Singleton, A, Ramey, VL, Wou, K, Kuzminsky, A, Monfort, S, Weiss, M, Doyle, S, Iglesias, A, Martinez, F, Mckenzie, F, Orellana, C, van Gassen, KLI, Palomares, M, Bazak, L, Lee, A, Bircher, A, Basel-Vanagaite, L, Hafstrom, M, Houge, G, Goldstein, DB, Anyane-Yeboa, K, C4RCD Res Grp, DDD Study

Publikováno v: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

De novo germline mutations in GNB1 have been associated with a neurodevelopmental phenotype. To date, 28 patients with variants classified as pathogenic have been reported. We add 18 patients with de novo mutations to this cohort, including a patient

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::486bbe5121f9c60837d0c3c89ca039a5
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=10064

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Asymptomatic idiopathic intracranial hypertension in children.

Autor: Bassan, H.¹, Berkner, L.², Stolovitch, C.², Kesler, A.² kesler@netvision.net.il

Publikováno v: Acta Neurologica Scandinavica. Oct2008, Vol. 118 Issue 4, p251-255. 5p. 3 Charts.