Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

Autor: Neuray, C., Maroofian, R., Scala, M., Sultan, T., Pai, G. S., Mojarrad, M., Khashab, H. E., Deholl, L., Yue, W., Alsaif, H. S., Zanetti, M. N., Bello, O., Person, R., Eslahi, A., Khazaei, Z., Feizabadi, M. H., Efthymiou, S., El-Bassyouni, H. T., Soliman, D. R., Tekes, S., Ozer, L., Baltaci, V., Khan, S., Beetz, C., Amr, K. S., Salpietro, V., Jamshidi, Y., Alkuraya, F. S., Houlden, H., Groppa, S., Karashova, B. M., Nachbauer, W., Boesch, S., Arning, L., Timmann, D., Cormand, B., Perez-Duenas, B., Synaps, Group, Di Rosa, G., Aguennouz, M., Goraya, J. S., Mine, J., Avdjieva, D., Kathom, H., Tincheva, R., Banu, S., Pineda-Marfa, M., Veggiotti, P., Ferrari, M. D., Verrotti, A., Marseglia, G., Savasta, S., Garcia-Silva, M., Ruiz, A. M., Garavaglia, B., Borgione, E., Portaro, S., Sanchez, B. M., Boles, R., Papacostas, S., Vikelis, M., Papanicolaou, E. Z., Dardiotis, E., Maqbool, S., Ibrahim, S., Kirmani, S., Rana, N. N., Atawneh, O., Koutsis, G., Breza, M., Mangano, S., Scuderi, C., Morello, G., Stojkovic, T., Zollo, M., Heimer, G., Dauvilliers, Y. A., Striano, P., Al-Khawaja, I., Al-Mutairi, F., Sherifa, H.

Publikováno v: Dipòsit Digital de la UB
Universidad de Barcelona
Brain
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2020, 143 (8), pp.2388-2397. ⟨10.1093/brain/awaa178⟩
Publons

Mice lacking GAD1 show neonatal mortality, but the human phenotype associated with GAD1 disruption is poorly characterized. Neuray et al. describe six patients with biallelic GAD1 mutations, presenting with early-infantile onset epilepsy, neurodevelo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55108cc53157474a74f1616404044b9d
http://hdl.handle.net/11567/1022383

Relationship between embryo quality and aneuploidies

Autor: Baltaci, V, Satiroglu, H, Kabukçu, C, Ünsal, E, Aydinuraz, B, Üner, Ö, Aktas, Y, Çetinkaya, E, Turhan, F, Aktan, A

Publikováno v: In Reproductive BioMedicine Online 2006 12(1):77-82

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Genotoxicity Evaluation in Female Patients On Valproic Acid Monotherapy Using Alkaline Single Cell Gel Electrophoresis (Comet Assay)

Autor: DENLİ, M., AYDIN, H.i., DÜNDARÖZ, R., ÖZIŞIK, T., ERDEM, E., BALTACI, V.

Publikováno v: Volume: 5, Issue: 2 61-65
EASTERN JOURNAL OF MEDICINE

Valproic acid is a commonly used antiepileptic drugfor chronic therapy and may have adverse effects ongastrointestinal, hematologic and nervous system.Potential mutagenic effects of sodium valproate havebeen reported, but this effect of valproic acid

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=tubitakulakb::ae742a9024b97bae7c658c9aa65f12e4
https://dergipark.org.tr/tr/pub/ejm/issue/5361/72637