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

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 GAD67, contributes up to ∼90% of base-level GABA in the CNS, and is encoded...

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Detalles Bibliográficos
Autores principales: Neuray, Caroline, Maroofian, Reza, Scala, Marcello, Sultan, Tipu, Pai, Gurpur S, Mojarrad, Majid, Khashab, Heba El, deHoll, Leigh, Yue, Wyatt, Alsaif, Hessa S, Zanetti, Maria N, Bello, Oscar, Person, Richard, Eslahi, Atieh, Khazaei, Zaynab, Feizabadi, Masoumeh H, Efthymiou, Stephanie, El-Bassyouni, Hala T, Soliman, Doaa R, Tekes, Selahattin, Ozer, Leyla, Baltaci, Volkan, Khan, Suliman, Beetz, Christian, Amr, Khalda S, Salpietro, Vincenzo, Jamshidi, Yalda, Alkuraya, Fowzan S, Houlden, Henry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7447512/
https://www.ncbi.nlm.nih.gov/pubmed/32705143
http://dx.doi.org/10.1093/brain/awaa178

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7447512/
https://www.ncbi.nlm.nih.gov/pubmed/32705143
http://dx.doi.org/10.1093/brain/awaa178

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