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A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography - case study.
Pironti, Erica; Salpietro, Vincenzo; Cucinotta, Francesca; Granata, Francesca; Mormina, Enricomaria; Efthymiou, Stephanie; Scuderi, Carmela; Gagliano, Antonella; Houlden, Henry; Di Rosa, Gabriella.
Afiliação
  • Pironti E; a Department of Human Pathology of the Adult and Developmental Age "Gaetano Barresi" Unit of Child Neurology and Psychiatry , University of Messina , Messina , Italy.
  • Salpietro V; b Department of Molecular Neuroscience , UCL Institute of Neurology , London , UK.
  • Cucinotta F; a Department of Human Pathology of the Adult and Developmental Age "Gaetano Barresi" Unit of Child Neurology and Psychiatry , University of Messina , Messina , Italy.
  • Granata F; c Neuroradiology Unit - Department of Biomedical Sciences and Morphological and Functional Imaging , University of Messina , Messina , Italy.
  • Mormina E; c Neuroradiology Unit - Department of Biomedical Sciences and Morphological and Functional Imaging , University of Messina , Messina , Italy.
  • Efthymiou S; d Department of Clinical and Experimental Medicine , University of Messina , Messina , Italy.
  • Scuderi C; b Department of Molecular Neuroscience , UCL Institute of Neurology , London , UK.
  • Gagliano A; e Unit of Neuromuscular Diseases, Oasi Research Institute-IRCCS, Troina , Italy.
  • Houlden H; a Department of Human Pathology of the Adult and Developmental Age "Gaetano Barresi" Unit of Child Neurology and Psychiatry , University of Messina , Messina , Italy.
  • Di Rosa G; b Department of Molecular Neuroscience , UCL Institute of Neurology , London , UK.
J Neurogenet ; 32(4): 316-321, 2018 12.
Article em En | MEDLINE | ID: mdl-29989513
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Quadriplegia / Encefalopatias / Sistema ASC de Transporte de Aminoácidos / Epilepsia / Microcefalia Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Quadriplegia / Encefalopatias / Sistema ASC de Transporte de Aminoácidos / Epilepsia / Microcefalia Tipo de estudo: Prognostic_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article