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Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
Marafi, Dana; Fatih, Jawid M; Kaiyrzhanov, Rauan; Ferla, Matteo P; Gijavanekar, Charul; Al-Maraghi, Aljazi; Liu, Ning; Sites, Emily; Alsaif, Hessa S; Al-Owain, Mohammad; Zakkariah, Mohamed; El-Anany, Ehab; Guliyeva, Ulviyya; Guliyeva, Sughra; Gaba, Colette; Haseeb, Ateeq; Alhashem, Amal M; Danish, Enam; Karageorgou, Vasiliki; Beetz, Christian; Subhi, Alaa A; Mullegama, Sureni V; Torti, Erin; Sebastin, Monisha; Breilyn, Margo Sheck; Duberstein, Susan; Abdel-Hamid, Mohamed S; Mitani, Tadahiro; Du, Haowei; Rosenfeld, Jill A; Jhangiani, Shalini N; Coban Akdemir, Zeynep; Gibbs, Richard A; Taylor, Jenny C; Fakhro, Khalid A; Hunter, Jill V; Pehlivan, Davut; Zaki, Maha S; Gleeson, Joseph G; Maroofian, Reza; Houlden, Henry; Posey, Jennifer E; Sutton, V Reid; Alkuraya, Fowzan S; Elsea, Sarah H; Lupski, James R.
Afiliação
  • Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Fatih JM; Department of Pediatrics, Faculty of Medicine, Kuwait University, P.O. Box 24923, 13110 Safat, Kuwait.
  • Kaiyrzhanov R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Ferla MP; Department of Neuromuscular Disorders Institute of Neurology, University College London, Queen Square, London, UK.
  • Gijavanekar C; NIHR Oxford Biomedical Research Centre, Oxford OX4 2PG, UK.
  • Al-Maraghi A; Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
  • Liu N; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Sites E; Baylor Genetics Laboratory, Houston, TX 77030, USA.
  • Alsaif HS; Department of Human Genetics, Sidra Medicine, Doha 26999, Qatar.
  • Al-Owain M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Zakkariah M; Baylor Genetics Laboratory, Houston, TX 77030, USA.
  • El-Anany E; Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH 43205, USA.
  • Guliyeva U; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Guliyeva S; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Gaba C; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University 11533, Riyadh, Saudi Arabia.
  • Haseeb A; Section of Child Neurology, Department of Pediatrics, Al-adan Hospital, Riqqa, Kuwait.
  • Alhashem AM; Section of Child Neurology, Department of Pediatrics, Al-adan Hospital, Riqqa, Kuwait.
  • Danish E; MediClub Hospital, Baku, AZ 1010 Azerbaijan.
  • Karageorgou V; MediClub Hospital, Baku, AZ 1010 Azerbaijan.
  • Beetz C; Department of Pediatrics, Bon Secours Mercy Health, Toledo, OH 43608, USA.
  • Subhi AA; Mercy Children's Hospital, Toledo, OH 43608, USA.
  • Mullegama SV; Division of Medical Genetic and Metabolic Medicine, Department of Pediatrics, Prince Sultan Medical Military City, Riyadh, Saudi Arabia.
  • Torti E; Department of Ophthalmology, King Fahad Armed Forces Hospital, Jeddah, Saudi Arabia.
  • Sebastin M; Centogene GmbH, Rostock, Germany.
  • Breilyn MS; Centogene GmbH, Rostock, Germany.
  • Duberstein S; Neurosciences Department, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia.
  • Abdel-Hamid MS; GeneDx, Gaithersburg, MD 20877, USA.
  • Mitani T; GeneDx, Gaithersburg, MD 20877, USA.
  • Du H; Albert Einstein College of Medicine and the Children's Hospital at Montefiore, Bronx, New York 10467, USA.
  • Rosenfeld JA; Division of Genetics, Department of Pediatrics, Montefiore Medical Center and Albert Einstein College of Medicine, Bronx, New York, 10467, USA.
  • Jhangiani SN; Albert Einstein College of Medicine and the Children's Hospital at Montefiore, Bronx, New York 10467, USA.
  • Coban Akdemir Z; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
  • Gibbs RA; Isabelle Rapin Division of Child Neurology in the Saul R Korey Department of Neurology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
  • Taylor JC; Department of Medical Molecular Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
  • Fakhro KA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Hunter JV; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Zaki MS; Baylor Genetics Laboratory, Houston, TX 77030, USA.
  • Gleeson JG; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Maroofian R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Houlden H; Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
  • Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Sutton VR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Alkuraya FS; NIHR Oxford Biomedical Research Centre, Oxford OX4 2PG, UK.
  • Elsea SH; Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
  • Lupski JR; Department of Human Genetics, Sidra Medicine, Doha 26999, Qatar.
Brain ; 145(3): 909-924, 2022 04 29.
Article em En | MEDLINE | ID: mdl-34605855
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia Generalizada / Trocador de Sódio e Cálcio Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia Generalizada / Trocador de Sódio e Cálcio Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article