Browsing by Author "Nachbauer, Wolfgang"
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Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants
Neuray, Caroline; Maroofian, Reza; Scala, Marcello; Sultan, Tipu; Pai, Gurpur Shashidhar; Mojarrad, Majid; Khashab, Heba Youssef E.L.; deHoll, Leigh; Yue, Wyatt Wai Yin; Alsaif, Hessa S.; Zanetti, María Natalia; Bello, Oscar; Person, Richard Erwin; Eslahi, Atieh; Khazaei, Zaynab; Feizabadi, Masoumeh Heidari; Efthymiou, Stephanie; El-Bassyouni, Hala Tabie; Soliman, Doaa Refaey; Tekeş, Selahattin; Özer, Leyla; Baltacı, Volkan; Khan, Suliman; Beetz, Christian; Amr, Khalda; Salpietro, Vincenzo; Jamshidi, Yalda; Alkuraya., Fowzan S.; Houlden, Henry H.; Groppa, Stanislav A.; Karashova, Blagovesta Marinova; Nachbauer, Wolfgang; Boesch, Sylvia M.; Arning, Larissa; Timmann, Dagmar; Cormand, Bru; Pérez-Dueñas, Belén; Di Rosa, Gabriella; Goraya, Jatinder Singh; Mine, June; Avdjieva-Tzavella, Daniela Mircheva; Kathom, Hadil Mohamed; Tincheva, Radka Stefanova; Banu, Selina H.; Pineda-Marfà, Mercedes; Veggiotti, Pierangelo; Ferrari, Michel D.; Verrottï, Alberto; Marseglia, Gian Luigi; Savasta, Salvatore; García-Silva, Mayte; Ruiz, Alfons Macaya; Garavaglia, Barbara; Borgione, Eugenia; Portaro, Simona; Sanchez, Benigno Monteagudo; Boles, Richard G.; Papacostas, Savvas S.; Vikelis, Michail; Papanicolaou, Eleni Zamba; Dardiotis, Efthymios; Maqbool, Shazia; Ibrahim, Shahnaz Hamid; Kirmani, Salman; Rana, Nuzhat Noureen; Atawneh, Osama M.; Koutsis, Georgios; Breza, Marianthi; Mangano, Salvatore; Scuderi, Carmela; Morello, Giovanna; Stojkovic, Tanya; Zollo, M.; Heimer, Gali; Dauvilliers, Yves A.; Striano, Pasquale; Al-Khawaja, Issam; Al-Mutairi, Fuad; Sherifa, Hamed (Oxford University Press, 2020)Gamma-aminobutyric acid (GABA) and glutamate are the most abundant amino acid neurotransmitters in the brain. GABA, an inhibitory neurotransmitter, is synthesized by glutamic acid decarboxylase (GAD). Its predominant isoform ...
