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dc.contributor.author
Neuray, Caroline
dc.contributor.author
Maroofian, Reza
dc.contributor.author
Scala, Marcello
dc.contributor.author
Sultan, Tipu
dc.contributor.author
Pai, Gurpur S.
dc.contributor.author
Mojarrad, Majid
dc.contributor.author
El Khashab, Heba
dc.contributor.author
deHoll, Leigh
dc.contributor.author
Yue, Wyatt
dc.contributor.author
Alsaif, Hessa S.
dc.contributor.author
Zanetti, Maria Natalia
dc.contributor.author
Bello, Oscar Daniel
dc.contributor.author
Person, Richard
dc.contributor.author
Eslahi, Atieh
dc.contributor.author
Khazaei, Zaynab
dc.contributor.author
Feizabadi, Masoumeh H.
dc.contributor.author
Efthymiou, Stephanie
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El Bassyouni, Hala T.
dc.contributor.author
Soliman, Doaa R.
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Tekes, Selahattin
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Ozer, Leyla
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Baltaci, Volkan
dc.contributor.author
Khan, Suliman
dc.contributor.author
Beetz, Christian
dc.contributor.author
Amr, Khalda S.
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Salpietro, Vincenzo
dc.contributor.author
Jamshidi, Yalda
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Alkuraya, Fowzan S.
dc.contributor.author
Houlden, Henry
dc.date.available
2021-08-24T12:42:31Z
dc.date.issued
2020-08
dc.identifier.citation
Neuray, Caroline; Maroofian, Reza; Scala, Marcello; Sultan, Tipu; Pai, Gurpur S.; et al.; Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants; Oxford University Press; Brain; 143; 8; 8-2020; 2388-2397
dc.identifier.issn
0006-8950
dc.identifier.uri
http://hdl.handle.net/11336/138749
dc.description.abstract
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 by the GAD1 gene. Disruption of GAD1 results in an imbalance of inhibitory and excitatory neurotransmitters, and as Gad1-/- mice die neonatally of severe cleft palate, it has not been possible to determine any potential neurological dysfunction. Furthermore, little is known about the consequence of GAD1 disruption in humans. Here we present six affected individuals from six unrelated families, carrying bi-allelic GAD1 variants, presenting with developmental and epileptic encephalopathy, characterized by early-infantile onset epilepsy and hypotonia with additional variable non-CNS manifestations such as skeletal abnormalities, dysmorphic features and cleft palate. Our findings highlight an important role for GAD1 in seizure induction, neuronal and extraneuronal development, and introduce GAD1 as a new gene associated with developmental and epileptic encephalopathy.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Oxford University Press
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
CLEFT PALATE
dc.subject
EPILEPSY
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GAD1
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MUSCLE WEAKNESS
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NEURODEVELOPMENTAL DELAY
dc.subject.classification
Neurociencias
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Medicina Básica
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CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2021-04-28T20:04:38Z
dc.journal.volume
143
dc.journal.number
8
dc.journal.pagination
2388-2397
dc.journal.pais
Reino Unido
dc.journal.ciudad
Oxford
dc.description.fil
Fil: Neuray, Caroline. University College London; Estados Unidos
dc.description.fil
Fil: Maroofian, Reza. University College London; Estados Unidos
dc.description.fil
Fil: Scala, Marcello. University College London; Estados Unidos
dc.description.fil
Fil: Sultan, Tipu. Children’s Hospital and Institute of Child Health,; Pakistán
dc.description.fil
Fil: Pai, Gurpur S.. Medical University of South Carolina; Estados Unidos
dc.description.fil
Fil: Mojarrad, Majid. Mashhad University of Medical Sciences; Irán. Genetic Center of Khorasan Razavi; Irán
dc.description.fil
Fil: El Khashab, Heba. , Children’s Hospital, Ain Shams University; Egipto
dc.description.fil
Fil: deHoll, Leigh. Medical University Of South Carolina; Estados Unidos
dc.description.fil
Fil: Yue, Wyatt. University of Oxford; Reino Unido
dc.description.fil
Fil: Alsaif, Hessa S.. Mashhad University of Medical Sciences; Irán
dc.description.fil
Fil: Zanetti, Maria Natalia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mendoza. Instituto de Medicina y Biología Experimental de Cuyo; Argentina. University College London; Estados Unidos
dc.description.fil
Fil: Bello, Oscar Daniel. University College London; Estados Unidos. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.description.fil
Fil: Person, Richard. No especifíca;
dc.description.fil
Fil: Eslahi, Atieh. University College London; Estados Unidos
dc.description.fil
Fil: Khazaei, Zaynab. Genetic Center of Khorasan Razavi; Irán
dc.description.fil
Fil: Feizabadi, Masoumeh H.. Mashhad University Of Medical Sciences; Irán
dc.description.fil
Fil: Efthymiou, Stephanie. Colegio Universitario de Londres; Reino Unido
dc.description.fil
Fil: El Bassyouni, Hala T.. Colegio Universitario de Londres; Reino Unido
dc.description.fil
Fil: Soliman, Doaa R.. Benha University; Egipto
dc.description.fil
Fil: Tekes, Selahattin. Dicle University; Turquía
dc.description.fil
Fil: Ozer, Leyla. Yuksek Ihtisas University; Turquía
dc.description.fil
Fil: Baltaci, Volkan. Mikrogen Genetic Diagnosis Center; Turquía
dc.description.fil
Fil: Khan, Suliman. No especifíca;
dc.description.fil
Fil: Beetz, Christian. No especifíca;
dc.description.fil
Fil: Amr, Khalda S.. National Research Centre; Egipto
dc.description.fil
Fil: Salpietro, Vincenzo. University College London; Estados Unidos
dc.description.fil
Fil: Jamshidi, Yalda. University of London; Reino Unido
dc.description.fil
Fil: Alkuraya, Fowzan S.. King Faisal Specialist Hospital and Research Center Riyadh; Arabia Saudita
dc.description.fil
Fil: Houlden, Henry. University of London; Reino Unido
dc.journal.title
Brain
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://academic.oup.com/brain/article/143/8/2388/5875729
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1093/brain/awaa178
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