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

Cofactor-dependent conformational heterogeneity of GAD65 and its role in autoimmunity and neurotransmitter homeostasis

Autor: Carla Borri Voltattorni, Itamar Kass, Nathan Cowieson, Malcolm Buckle, David Perahia, Mauricio G. S. Costa, Daniel Christ, David B. Langley, David E. Hoke, Eugenia Pennacchietti, Ian R. Mackay, Oded Kleifeld, Cyril F. Reboul, Hervé Leh, Benjamin T. Porebski, Ashley M. Buckle, Julia M. McCoey, Brendan Roome, Daniela De Biase, Alessandro Paiardini

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2014, 111 (25), pp.E2524-2529. ⟨10.1073/pnas.1403182111⟩

International audience; The human neuroendocrine enzyme glutamate decarboxylase (GAD) catalyses the synthesis of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA) using pyridoxal 5′-phosphate as a cofactor. GAD exists as two isoforms n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d16d55162420f70d6b6626fd7318824
https://hal-riip.archives-ouvertes.fr/pasteur-01146884

Localization of the GABAergic and non-GABAergic neurons projecting to the sublaterodorsal nucleus and potentially gating paradoxical sleep onset

Autor: Damien Gervasoni, Romuald Boissard, Patrice Fort, Pierre-Hervé Luppi, Bruno Barbagli

Publikováno v: Supplement ... to the European journal of neuroscience.
Supplement .. to the European journal of neuroscience., 2003, 18 (6), pp.1627-39
European Journal of Neuroscience
European Journal of Neuroscience, Wiley, 2003, 18 (6), pp.1627-39
European Journal of Neuroscience, Wiley, 2003, 18 (6), pp.1627-1639. ⟨10.1046/j.1460-9568.2003.02861.x⟩

International audience; We recently determined in rats that iontophoretic application of bicuculline or gabazine [two GABAa antagonists] and kainic acid (a glutamate agonist) in the sublaterodorsal nucleus (SLD) induces with a very short latency a pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::160653d3207b019ed52ab450c2f6968b
https://doi.org/10.1046/j.1460-9568.2003.02861.x

Dendritic but not somatic GABAergic inhibition is decreased in experimental epilepsy

Autor: Céline Dinocourt, Angel Merchán-Pérez, J. De Felipe, J.C. Hirsch, Christophe Bernard, Rosa Cossart, Yehezkel Ben-Ari, Monique Esclapez

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
instname
Nature Neuroscience
Nature Neuroscience, Nature Publishing Group, 2001, 4 (1), pp.52-62. ⟨10.1038/82900⟩
ResearcherID

Impaired inhibition is thought to be important in temporal lobe epilepsy (TLE), the most common form of epilepsy in adult patients. We report that, in experimental TLE, spontaneous GABAergic inhibition was increased in the soma but reduced in the den

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4353770e71f829534fd1083fc4975ce8
https://doi.org/10.1038/82900

The glutamic acid decarboxylase system of the new species Brucella microti contributes to its acid resistance and to oral infection of mice

Autor: Stephan Köhler, Nabil Hanna, Bashir Saadeh, Alessandra Occhialini, María Pilar Jiménez de Bagüés, Daniela De Biase, Daniela Bastianelli

Publikováno v: Journal of Infectious Diseases
Journal of Infectious Diseases, Oxford University Press (OUP), 2012, 206 (9), pp.1424-32. ⟨10.1093/infdis/jis522⟩

BACKGROUND: Genome analysis indicated that the new species Brucella microti possesses a potentially functional glutamate decarboxylase (GAD) system involved in extreme acid resistance in several foodborne bacteria. The contribution of this system in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::748afa3e5defd2f5bb582207406ea756
https://pubmed.ncbi.nlm.nih.gov/22930809