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Lethal digenic mutations in the K+ channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay.
Hasan, Sonia; Balobaid, Ameera; Grottesi, Alessandro; Dabbagh, Omar; Cenciarini, Marta; Rawashdeh, Rifaat; Al-Sagheir, Afaf; Bove, Cecilia; Macchioni, Lara; Pessia, Mauro; Al-Owain, Mohammed; D'Adamo, Maria Cristina.
Afiliação
  • Hasan S; Department of Physiology, Faculty of Medicine, Kuwait University, Safat, Kuwait.
  • Balobaid A; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • Grottesi A; Super Computing Applications and Innovation-CINECA, Rome, Italy.
  • Dabbagh O; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • Cenciarini M; Section of Physiology and Biochemistry, Department of Experimental Medicine, School of Medicine, University of Perugia, Perugia, Italy.
  • Rawashdeh R; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • Al-Sagheir A; Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • Bove C; Section of Physiology and Biochemistry, Department of Experimental Medicine, School of Medicine, University of Perugia, Perugia, Italy.
  • Macchioni L; Section of Physiology and Biochemistry, Department of Experimental Medicine, School of Medicine, University of Perugia, Perugia, Italy.
  • Pessia M; Section of Physiology and Biochemistry, Department of Experimental Medicine, School of Medicine, University of Perugia, Perugia, Italy.
  • Al-Owain M; Department of Physiology and Biochemistry, Faculty of Medicine and Surgery, University of Malta, Msida, Malta.
  • D'Adamo MC; Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
J Neurophysiol ; 118(4): 2402-2411, 2017 10 01.
Article em En | MEDLINE | ID: mdl-28747464
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Convulsões / Canais de Potássio / Deficiências do Desenvolvimento / Mutação de Sentido Incorreto / Canais de Potássio Corretores do Fluxo de Internalização / Mutação com Perda de Função / Proteínas do Tecido Nervoso Tipo de estudo: Risk_factors_studies Limite: Animals / Humans / Infant / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Convulsões / Canais de Potássio / Deficiências do Desenvolvimento / Mutação de Sentido Incorreto / Canais de Potássio Corretores do Fluxo de Internalização / Mutação com Perda de Função / Proteínas do Tecido Nervoso Tipo de estudo: Risk_factors_studies Limite: Animals / Humans / Infant / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article