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Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy.
Ramadan, W; Patel, N; Anazi, S; Kentab, A Y; Bashiri, F A; Hamad, M H; Jad, L; Salih, M A; Alsaif, H; Hashem, M; Faqeih, E; Shamseddin, H E; Alkuraya, F S.
Afiliação
  • Ramadan W; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Patel N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Anazi S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Kentab AY; Department of Pediatrics, College of Medicine and King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia.
  • Bashiri FA; Department of Pediatrics, College of Medicine and King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia.
  • Hamad MH; Department of Pediatrics, College of Medicine and King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia.
  • Jad L; Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Salih MA; Department of Pediatrics, College of Medicine and King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia.
  • Alsaif H; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Hashem M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Faqeih E; Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Shamseddin HE; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Clin Genet ; 92(3): 327-331, 2017 Sep.
Article em En | MEDLINE | ID: mdl-28218389
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Epilepsia / Subunidade beta-1 do Canal de Sódio Disparado por Voltagem / Genes Recessivos / Mutação Limite: Animals / Child / Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Epilepsia / Subunidade beta-1 do Canal de Sódio Disparado por Voltagem / Genes Recessivos / Mutação Limite: Animals / Child / Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article