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Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: Expansion of the phenotype.
Gorman, Kathleen M; Forman, Eva; Conroy, Judith; Allen, Nicholas M; Shahwan, Amre; Lynch, Sally A; Ennis, Sean; King, Mary D.
Afiliación
  • Gorman KM; Department of Paediatric Neurology and Clinical Neurophysiology, Children's University Hospital, Dublin, Ireland.
  • Forman E; Department of Paediatric Neurology and Clinical Neurophysiology, Children's University Hospital, Dublin, Ireland.
  • Conroy J; Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.
  • Allen NM; Department of Paediatrics, National University of Ireland Galway and Galway University Hospital, Galway, Ireland.
  • Shahwan A; Department of Paediatric Neurology and Clinical Neurophysiology, Children's University Hospital, Dublin, Ireland.
  • Lynch SA; Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.
  • Ennis S; Department of Clinical Genetics, Children's University Hospital, Dublin, Ireland.
  • King MD; Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.
Epilepsia ; 58(7): 1301-1302, 2017 07.
Article en En | MEDLINE | ID: mdl-28677859

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Convulsiones / Variación Genética / Proteínas Cromosómicas no Histona / Proteínas de Ciclo Celular / Epilepsia Tipo de estudio: Etiology_studies Límite: Adolescent / Female / Humans Idioma: En Año: 2017 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Convulsiones / Variación Genética / Proteínas Cromosómicas no Histona / Proteínas de Ciclo Celular / Epilepsia Tipo de estudio: Etiology_studies Límite: Adolescent / Female / Humans Idioma: En Año: 2017 Tipo del documento: Article